esv4009212
- Organism: Homo sapiens
- Study:estd231 (Wong et al. 2017)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,785
- Publication(s):Wong et al. 2017
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 363 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4009212 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 42,457,884 | 42,511,668 |
| esv4009212 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 43,032,020 | 43,085,804 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26065591 | inversion | Sequencing | Split read and paired-end mapping | Juvenile idiopathic arthritis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26065591 | Remapped | Perfect | NC_000013.11:g.424 57884_42511668inv | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 42,457,884 | 42,511,668 |
| essv26065591 | Submitted genomic | NC_000013.10:g.430 32020_43085804inv | GRCh37 (hg19) | NC_000013.10 | Chr13 | 43,032,020 | 43,085,804 |