| Accession | HsInv0011 | Region of the inversion | chr1:246734283-246737959 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 1,677 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:246734283-246736283 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:246735959-246737959 |
| Comments | False inversion prediction caused by incorrect mapping due to a 2-kb sequencing gap in HuRef within one copy of an inverted SD
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr1:246735283-246735283 | Breakpoint 2 | chr1:246736959-246736959 | ||||
| Individuals |
| ||||||
+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||||
| Method | Genome sequence comparison |
| Status | False |
| Comment | Sequence analysis indicates that inversion prediction is caused by incorrect local mapping between HG18 and HuRef due to a 2-kb sequencing gap in HuRef within one copy of an inverted SD |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:246734283-246736283 | Breakpoint 2 | chr1:246735959-246737959 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 11.73 | GC content | 0.36 | Stability | 1.73 |
+ 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 10:15:24
| Breakpoint 1 | chr1:246734283-246736283 | Breakpoint 2 | chr1:246735959-246737959 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
