esv4009295
- 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:34,628
- 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: 277 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4009295 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 6,296,871 | 6,331,498 |
| esv4009295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 6,296,882 | 6,331,509 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26065666 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26065666 | Remapped | Perfect | NC_000019.10:g.629 6871_6331498inv | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 6,296,871 | 6,331,498 |
| essv26065666 | Submitted genomic | NC_000019.9:g.6296 882_6331509inv | GRCh37 (hg19) | NC_000019.9 | Chr19 | 6,296,882 | 6,331,509 |