| Accession | HsInv0380 | Region of the inversion | chr19:48549951-48576684 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 25,652 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr19:48549951-48551029 |
| Ancestral orientation | NA | Breakpoint 2 | chr19:48575598-48576684 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr19:48550429-48550551 | Breakpoint 2 | chr19:48576084-48576198 | ||||
| Individuals |
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- 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 | chr19:48526507-48565585 | Breakpoint 2 | chr19:48572983-48592149 | ||||||||||||||||||||
| D/C Score | -1.13 | Disc. Support Prob. | 0.6587 | ||||||||||||||||||||
| Support | 3 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr19:48549951-48551029 | Breakpoint 2 | chr19:48575598-48576684 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 9.48 | GC content | 0.73 | Stability | 2.4 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr19:48550463-48561846 | 11,384 | chr19:48565074-48576277 | 11,204 | 0.981 | 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
- CD177
| Gene position | chr19:48549664-48559320 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:30
| Breakpoint 1 | chr19:48549951-48551029 | Breakpoint 2 | chr19:48575598-48576684 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
