| Accession | HsInv0348 | Region of the inversion | chr14:105223870-105242734 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 12,367 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr14:105223870-105231288 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:105237156-105242734 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| 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 | chr14:105228870-105228870 | Breakpoint 2 | chr14:105237734-105237734 | ||||
| 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 | chr14:105197971-105231288 | Breakpoint 2 | chr14:105237156-105271381 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.90262 | ||||||||||||||||||||
| Support | 4 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr14:105223870-105231288 | Breakpoint 2 | chr14:105237156-105242734 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.05 | GC content | 0.57 | Stability | 1.98 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr14:105228884-105231000 | 2,117 | chr14:105235669-105237762 | 2,094 | 0.968 | Inverted |
+ 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr14:105223870-105231288 | Breakpoint 2 | chr14:105237156-105242734 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:49
| Breakpoint 1 | chr14:105197971-105231288 | Breakpoint 2 | chr14:105237156-105271381 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
