| Accession | HsInv0634 | Region of the inversion | chr16:54357932-54424316 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 43,339 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr16:54357932-54382026 |
| Ancestral orientation | NA | Breakpoint 2 | chr16:54402317-54424316 |
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Human Polymorphic Inversion DataBase
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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 | chr16:54350056-54354976 | Breakpoint 2 | chr16:54423120-54429203 | ||||
| Individuals |
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| Name | |||||||
| Breakpoint 1 | chr16:54360776-54399633 | Breakpoint 2 | chr16:54405700-54407157 | ||||
| Individuals |
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| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr16:54371222-54371837 | Breakpoint 2 | chr16:54407757-54407878 | ||||
| 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 | chr16:54357932-54364849 | Breakpoint 2 | chr16:54420753-54424316 | ||||||||||||||||||||
| D/C Score | -4.07 | Disc. Support Prob. | 0.02051 | ||||||||||||||||||||
| Support | 30 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr16:54362043-54382026 | Breakpoint 2 | chr16:54408291-54413103 | ||||||||||||||||||||
| D/C Score | -6.57 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 20 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | 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 | chr16:54357932-54382026 | Breakpoint 2 | chr16:54402317-54424316 | |||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 9.97 | GC content | 0.44 | Stability | 1.94 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr16:54345539-54379462 | 33,924 | chr16:54400016-54430930 | 30,915 | 0.945 | 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
- CES1
| Gene position | chr16:54394264-54424576 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:39
| Breakpoint 1 | chr16:54357932-54382026 | Breakpoint 2 | chr16:54402317-54424316 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
