esv4008963
- 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:94,492
- 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: 295 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 43 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv4008963 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 18,175,378 | 18,269,869 |
esv4008963 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 18,177,001 | 18,271,492 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
essv26065367 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv26065367 | Remapped | Perfect | NC_000004.12:g.181 75378_18269869inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 18,175,378 | 18,269,869 |
essv26065367 | Submitted genomic | NC_000004.11:g.181 77001_18271492inv | GRCh37 (hg19) | NC_000004.11 | Chr4 | 18,177,001 | 18,271,492 |