| Accession | HsInv1321 | Region of the inversion | chr14:64907292-64917888 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 729 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr14:64907292-64917057 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:64907918-64917888 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr14:64912057-64912057 | Breakpoint 2 | chr14:64912918-64912918 |
| Individuals | 1231 out of 2504 individuals
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| 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 | chr14:64912292-64912292 | Breakpoint 2 | chr14:64912888-64912888 | ||||
| Individuals |
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+ Validation and genotyping
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||
| Method | Sequence analysis |
| Status | Validated |
| Comment | Simple inversion validated by sequence analysis of PacBio long reads from long-range PCR amplicons, PacBio long reads from fosmids, PacBio long reads from CHM1 genome |
| 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 | Sequence analysis |
| Status | Validated |
| Comment | Inversion validated by analysis of CH17-106K2 BAC sequence (AC255418) obtained with the Illumina Nextera system |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr14:64907292-64917057 | Breakpoint 2 | chr14:64907918-64917888 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.68 | GC content | 0.4 | Stability | 1.73 |
+ 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 | chr14:64907292-64917057 | Breakpoint 2 | chr14:64907918-64917888 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr14:64907057-64917057 | Breakpoint 2 | chr14:64907918-64917918 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
