| Accession | HsInv0002 | Region of the inversion | chr1:26839409-26846806 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 7,066 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr1:26839409-26839733 |
| Ancestral orientation | NA | Breakpoint 2 | chr1:26846466-26846806 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr1:26836956-26836956 | Breakpoint 2 | chr1:26849245-26849245 | ||||
| Individuals |
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| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr1:26837438-26839733 | Breakpoint 2 | chr1:26846466-26849722 | ||||
| Individuals |
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| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr1:26837042-26837042 | Breakpoint 2 | chr1:26845656-26845656 | ||||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr1:26840409-26840409 | Breakpoint 2 | chr1:26845806-26845806 | ||||
| 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 | chr1:26809656-26840080 | Breakpoint 2 | chr1:26845897-26875728 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 35 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||
| Method | Fluorescence in situ hybridization (FISH) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr1:26839409-26839733 | Breakpoint 2 | chr1:26846466-26846806 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.89 | GC content | 0.47 | Stability | 1.96 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr1:26836957-26841332 | 4,376 | chr1:26845233-26849746 | 4,514 | 0.943 | 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr1:26839409-26839733 | Breakpoint 2 | chr1:26846466-26846806 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:25
| Breakpoint 1 | chr1:26839409-26840080 | Breakpoint 2 | chr1:26845897-26846806 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
