| Accession | HsInv0748 | Region of the inversion | chr2:85396796-85424326 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 26,451 bp | Supporting predictions | 3 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Breaks one gene | Breakpoint 1 | chr2:85396796-85397878 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:85423248-85424326 |
| Comments | False inversion prediction possibly caused by incorrect paired-end mapping due to a region of sequence variation within SDs
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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 | chr2:85395953-85397671 | Breakpoint 2 | chr2:85424379-85425944 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr2:85396503-85396623 | Breakpoint 2 | chr2:85424328-85424459 | ||||
| Individuals |
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| Comments | Both predicted breakpoints are located in a region of sequence variation within SDs and discordant PEM pattern is probably caused by incorrect mapping of one end sequence. | ||||||
| Name | |||||||
| Breakpoint 1 | chr2:85397278-85397396 | Breakpoint 2 | chr2:85423726-85423848 | ||||
| Individuals |
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| Comments | Both predicted breakpoints are located in a region of sequence variation within SDs and discordant PEM pattern is probably caused by incorrect mapping of one end sequence | ||||||
+ Validation and genotyping
-INVFEST curation
| Description | Information update by manual analysis of InvFEST curators | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Sequence analysis indicates that inversion prediction is caused by incorrect paired-end mapping due to a variable sequence region when comparing HG18 and HuRef SDs |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:85396796-85397878 | Breakpoint 2 | chr2:85423248-85424326 | |||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NA
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| Flexibility | 10.97 | GC content | 0.42 | Stability | 1.86 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr2:85394273-85398062 | 3,790 | chr2:85422969-85425835 | 2,867 | 0.948 | 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
- RETSAT
| Gene position | chr2:85422588-85435332 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:15:06
| Breakpoint 1 | chr2:85396796-85397878 | Breakpoint 2 | chr2:85423248-85424326 |
| Assembly | hg18 | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:06
| Breakpoint 1 | chr2:85396796-85397878 | Breakpoint 2 | chr2:85423248-85424326 |
| Assembly | hg18 | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:06
| Breakpoint 1 | chr2:85396796-85397878 | Breakpoint 2 | chr2:85423248-85424326 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
