| Accession | HsInv0669 | Region of the inversion | chr2:130599207-132022894 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 1,384,769 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr2:130599207-130635376 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:131981226-132022894 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
- 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 | chr2:130599207-130635376 | Breakpoint 2 | chr2:131981226-132022894 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.03363 | ||||||||||||||||||||
| Support | 4 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:130599207-130635376 | Breakpoint 2 | chr2:131981226-132022894 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
|
|||||||||||||||
| Flexibility | 9.4 | GC content | 0.71 | Stability | 2.41 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr2:130595671-130715155 | 119,485 | chr2:131907248-132025390 | 118,143 | 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
- RNU6-81P
| Gene position | chr2:131919265-132076938 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:53
| Breakpoint 1 | chr2:130599207-130635376 | Breakpoint 2 | chr2:131981226-132022894 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
