esv4009086
- 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:185,347
- 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: 1050 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1050 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4009086 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 152,877,678 | 153,063,024 |
| esv4009086 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 152,574,763 | 152,760,109 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26065478 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26065478 | Remapped | Perfect | NC_000007.14:g.152 877678_153063024in v | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 152,877,678 | 153,063,024 |
| essv26065478 | Submitted genomic | NC_000007.13:g.152 574763_152760109in v | GRCh37 (hg19) | NC_000007.13 | Chr7 | 152,574,763 | 152,760,109 |