| Accession | HsInv0144 | Region of the inversion | chr12:130339370-130724947 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 371,958 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr12:130339370-130352990 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:130711327-130724947 |
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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 | chr12:130346180-130346180 | Breakpoint 2 | chr12:130718137-130718137 | ||||||
| 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 | Genome sequence comparison |
| Status | Validated |
| Comment | Inversion confirmed by comparison with the Celera Human Genome assembly |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:130339370-130352990 | Breakpoint 2 | chr12:130711327-130724947 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.28 | GC content | 0.52 | Stability | 1.96 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr12:130332730-130360360 | 27,631 | chr12:130700802-130735147 | 34,346 | 0.971 | 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
- 2015-02-23 10:14:59
| Breakpoint 1 | chr12:130339370-130352990 | Breakpoint 2 | chr12:130711327-130724947 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
