| Accession | HsInv0306 | Region of the inversion | chr8:2272401-2316149 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 42,902 bp | Supporting predictions | 2 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr8:2272401-2273753 |
| Ancestral orientation | NA | Breakpoint 2 | chr8:2315807-2316149 |
| Comments | False inversion prediction caused by incorrect paired-end mapping due to a 75-kb sequence missing in HG18 and HG19 that has been corrected in GL949743.1 fix patch for HG19
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
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 | chr8:2272401-2274736 | Breakpoint 2 | chr8:2315807-2318791 | ||||
| Individuals |
| ||||||
- 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 | chr8:2271365-2273753 | Breakpoint 2 | chr8:2315404-2316149 | ||||||||||||||||||||
| D/C Score | -0.19 | Disc. Support Prob. | 0.01363 | ||||||||||||||||||||
| Support | 64 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Inversion supported by many Fs of 1 BP with one end mapping in a region with a 75 kb gap changed in patch GRCh37.p5 GL949743 | ||||||||||||||||||||||
+ Validation and genotyping
| Description | Validation and genotyping of 22 inversion predictions by inverse PCR | ||||
| Method | Sequence analysis |
| Status | False |
| Comment | Sequence analysis indicates that the HG18 genome is missing 75 kb of sequence that has been corrected in GL949743.1 fix patch for HG19 and expands existing SDs. This new sequence provides additional concordant mappings for the fosmid ends with almost the same or higher identity than the discordant mappings supporting the inversion prediction in HG18. Analysis of AC193117.1 fosmid sequence indicates that the whole fosmid maps continuously and with high identity to the HG19 patch sequence. |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr8:2272401-2273753 | Breakpoint 2 | chr8:2315807-2316149 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 11.91 | GC content | 0.28 | Stability | 1.69 |
+ 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 10:14:44
| Breakpoint 1 | chr8:2271365-2273753 | Breakpoint 2 | chr8:2315404-2316149 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:44
| Breakpoint 1 | chr8:2272401-2273753 | Breakpoint 2 | chr8:2315807-2316149 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:44
| Breakpoint 1 | chr8:2272401-2273753 | Breakpoint 2 | chr8:2315807-2316149 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
