| Accession | HsInv1264 | Region of the inversion | chr12:69990817-70001553 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 737 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr12:69990817-70000817 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:69991553-70001553 |
| Comments | False inversion prediction caused by an inverted duplication
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr12:69995817-69995817 | Breakpoint 2 | chr12:69996553-69996553 |
| Individuals | 233 out of 2504 individuals
 | ||
+ Validation and genotyping
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Inverted duplication validated by sequence analysis of PacBio long reads from long-range PCR amplicons |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:69990817-70000817 | Breakpoint 2 | chr12:69991553-70001553 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 10.42 | GC content | 0.48 | Stability | 1.93 |
+ 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
- 2017-09-18 00:00:00
| Breakpoint 1 | chr12:69990817-70000817 | Breakpoint 2 | chr12:69991553-70001553 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
