| Accession | HsInv0581 | Region of the inversion | chr18:8102592-8156411 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 33,359 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr18:8102592-8114857 |
| Ancestral orientation | NA | Breakpoint 2 | chr18:8127755-8156411 |
|
|
 |
|
|
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 | chr18:8102592-8114857 | Breakpoint 2 | chr18:8127755-8156411 | ||||||||||||||||||||
| D/C Score | -2.02 | Disc. Support Prob. | 0.00039 | ||||||||||||||||||||
| Support | 2 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Analysis of fosmids supporting the inversion indicates that all of them have one end-read mapping in same region caused probably by misspriming of sequencing primer inside the fosmid. Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr18:8102592-8114857 | Breakpoint 2 | chr18:8127755-8156411 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 9.96 | GC content | 0.58 | Stability | 2.07 |
+ 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
- PTPRM
| Gene position | chr18:7557313-8396859 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:29
| Breakpoint 1 | chr18:8102592-8114857 | Breakpoint 2 | chr18:8127755-8156411 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
