| Accession | HsInv0122 | Region of the inversion | chr11:1885838-1922809 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 23,352 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr11:1885838-1899458 |
| Ancestral orientation | NA | Breakpoint 2 | chr11:1909189-1922809 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr11:1893406-1895934 | Breakpoint 2 | chr11:1909821-1920429 | ||||
| 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 | chr11:1892648-1892648 | Breakpoint 2 | chr11:1915999-1915999 | ||||||
| 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 | chr11:1873181-1878178 | Breakpoint 2 | chr11:1898344-1922007 | ||||||||||||||||||||
| D/C Score | 0.31 | Disc. Support Prob. | 0.05431 | ||||||||||||||||||||
| Support | 74 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr11:1880497-1893541 | Breakpoint 2 | chr11:1905660-1938898 | ||||||||||||||||||||
| D/C Score | -1.92 | Disc. Support Prob. | 0.00247 | ||||||||||||||||||||
| Support | 24 probes | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr11:1850614-1872337 | Breakpoint 2 | chr11:1907411-1932600 | ||||||||||||||||||||
| D/C Score | 1.11 | Disc. Support Prob. | 0.00229 | ||||||||||||||||||||
| Support | 122 probes | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| 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 | Polymerase chain reaction (PCR) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr11:1885838-1899458 | Breakpoint 2 | chr11:1909189-1922809 | ||
| Definition method | Manual curation | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.32 | GC content | 0.54 | Stability | 1.95 |
+ 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
- 2015-02-23 10:14:59
| Breakpoint 1 | chr11:1885838-1899458 | Breakpoint 2 | chr11:1909189-1922809 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:59
| Breakpoint 1 | chr11:1885838-1899458 | Breakpoint 2 | chr11:1909189-1922809 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:59
| Breakpoint 1 | chr11:1885838-1899458 | Breakpoint 2 | chr11:1909189-1922809 |
| Assembly | hg18 | ||
| Definition method | Manual curation | ||
