| Accession | HsInv0289 | Region of the inversion | chr7:143001058-143202859 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 199,040 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr7:143001058-143001768 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:143198045-143202859 |
|
|
 |
|
|
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 | chr7:143001058-143001768 | Breakpoint 2 | chr7:143198045-143202859 | ||||||||||||||||||||
| D/C Score | -6.98 | Disc. Support Prob. | 0.00182 | ||||||||||||||||||||
| Support | 10 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr7:143001058-143001768 | Breakpoint 2 | chr7:143198045-143202859 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
|
|||||||||||||||
| Flexibility | 10.48 | GC content | 0.32 | Stability | 1.77 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr7:142994353-143046471 | 52,119 | chr7:143146441-143202722 | 56,282 | 0.998 | 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
- FAM115A
| Gene position | chr7:143179393-143213399 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:55
| Breakpoint 1 | chr7:143001058-143001768 | Breakpoint 2 | chr7:143198045-143202859 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
