| Accession | HsInv0021 | Region of the inversion | chr12:12436093-12437892 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 1,740 bp | Supporting predictions | 8 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr12:12436093-12436153 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:12437832-12437892 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr12:12436059-12436059 | Breakpoint 2 | chr12:12437874-12437874 |
| Individuals | 2496 out of 2504 individuals
 | ||
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:12435637-12435637 | Breakpoint 2 | chr12:12438377-12438377 | ||||
| Individuals |
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| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:12435001-12436020 | Breakpoint 2 | chr12:12437892-12438008 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:12436072-12436263 | Breakpoint 2 | chr12:12437785-12437976 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:12436046-12436253 | Breakpoint 2 | chr12:12437612-12438037 | ||||
| Individuals |
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| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr12:12435235-12435235 | Breakpoint 2 | chr12:12436437-12436437 | ||||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:12436246-12436246 | Breakpoint 2 | chr12:12437784-12437784 | ||||
| Individuals |
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- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr12:12400714-12436609 | Breakpoint 2 | chr12:12437107-12474290 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99996 | ||||||||||||||||||||
| Support | 4 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||
| Method | Sequence analysis |
| Status | Validated |
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||
| Method | Sequence analysis |
| Status | Validated |
| Comment | Inversion validated by analysis of CH17-320A7 BAC sequence (AC255400) obtained with PacBio long reads |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:12436093-12436153 | Breakpoint 2 | chr12:12437832-12437892 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.57 | GC content | 0.46 | Stability | 1.87 |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
- LOH12CR1
| Gene position | chr12:12401286-12511105 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr12:12435653-12436609 | Breakpoint 2 | chr12:12437437-12438212 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr12:12435653-12436609 | Breakpoint 2 | chr12:12437437-12438212 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:12436093-12436153 | Breakpoint 2 | chr12:12437832-12437892 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:12435653-12436609 | Breakpoint 2 | chr12:12437437-12438212 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:12435653-12436609 | Breakpoint 2 | chr12:12437437-12438212 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:12435653-12436609 | Breakpoint 2 | chr12:12437437-12438212 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
