| Accession | HsInv0104 | Region of the inversion | chr7:158610903-158662214 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 30,962 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr7:158610903-158625455 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:158636066-158662214 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| 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 | chr7:158618645-158618645 | Breakpoint 2 | chr7:158644459-158644459 | ||||||
| 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 | chr7:158610903-158617505 | Breakpoint 2 | chr7:158636066-158662214 | ||||||||||||||||||||
| D/C Score | -1.85 | Disc. Support Prob. | 0.00084 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ 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 | chr7:158610903-158625455 | Breakpoint 2 | chr7:158636066-158662214 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.77 | GC content | 0.43 | Stability | 1.88 |
+ 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
- VIPR2
| Gene position | chr7:158513626-158630410 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:35
| Breakpoint 1 | chr7:158610903-158625455 | Breakpoint 2 | chr7:158636066-158662214 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:35
| Breakpoint 1 | chr7:158610903-158617505 | Breakpoint 2 | chr7:158636066-158662214 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
