esv4007991
- Organism: Homo sapiens
- Study:estd231 (Wong et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:226,258
- 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: 783 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 783 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4007991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 52,103,518 | 52,329,775 |
| esv4007991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 52,171,214 | 52,397,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26064492 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26064492 | Remapped | Perfect | NC_000007.14:g.521 03518_52329775dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 52,103,518 | 52,329,775 |
| essv26064492 | Submitted genomic | NC_000007.13:g.521 71214_52397471dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 52,171,214 | 52,397,471 |