| Accession | HsInv0126 | Region of the inversion | chr10:100478546-100490555 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 963 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr10:100478546-100489630 |
| Ancestral orientation | NA | Breakpoint 2 | chr10:100479545-100490555 |
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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 an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:100484069-100484107 | Breakpoint 2 | chr10:100484994-100485106 | ||||
| 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 | chr10:100484905-100484905 | Breakpoint 2 | chr10:100486316-100486316 | ||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr10:100478546-100489630 | Breakpoint 2 | chr10:100479545-100490555 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.7 | GC content | 0.37 | Stability | 1.79 |
+ 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
- HPSE2
| Gene position | chr10:100206823-100985622 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:59
| Breakpoint 1 | chr10:100478546-100489630 | Breakpoint 2 | chr10:100479545-100490555 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
