| Accession | HsInv1052 | Region of the inversion | chr7:70031528-70106476 |
| Status | Obsolete | Prediction type | Complex |
| Estimated Inversion Size | 42,081 bp | Supporting predictions | 7 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr7:70031528-70066512 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:70075724-70106476 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr7:70058658-70058907 | Breakpoint 2 | chr7:70076553-70076824 | ||||
| Individuals |
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| Name | |||||||
| Breakpoint 1 | chr7:70064132-70064343 | Breakpoint 2 | chr7:70076854-70077069 | ||||
| Individuals |
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| Description | Next-generation sequencing and analysis by paired-end mapping of a male Han Chinese individual genome | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr7:70058865-70058865 | Breakpoint 2 | chr7:70076604-70076604 |
| Individuals | |||
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr7:70064121-70064121 | Breakpoint 2 | chr7:70076815-70076815 | ||||
| Individuals |
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| Description | Identification of human inversion polymorphisms by comparative analysis of human and chimpanzee genome sequence assemblies | ||||||||||
| Method | Genome sequence comparison | ||||||||||
| Name | |||
| Breakpoint 1 | chr7:70058905-70058906 | Breakpoint 2 | chr7:70076823-70076824 |
| Individuals | |||
- 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 | chr7:70032007-70064629 | Breakpoint 2 | chr7:70076139-70106476 | ||||||||||||||||||||
| D/C Score | 0.75 | Disc. Support Prob. | 0.02333 | ||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr7:70031528-70066512 | Breakpoint 2 | chr7:70076380-70104763 | ||||||||||||||||||||
| D/C Score | 0.26 | Disc. Support Prob. | 0.71097 | ||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
| Comment | Polymorphic inversion |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr7:70031528-70066512 | Breakpoint 2 | chr7:70075724-70106476 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.47 | GC content | 0.49 | Stability | 1.92 |
+ 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
HsInv0166 and HsInv0063 merge into HsInv1052
HsInv1050 and HsInv1052 merge into HsInv1053
HsInv1050 and HsInv1052 merge into HsInv1053
- 2015-02-23 10:15:27
| Breakpoint 1 | chr7:70031528-70066512 | Breakpoint 2 | chr7:70075724-70106476 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
