esv4004798
- 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:115,325
- 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: 430 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4004798 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 224,945,644 | 225,060,968 |
| esv4004798 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 225,133,346 | 225,248,670 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26061619 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26061619 | Remapped | Perfect | NC_000001.11:g.224 945644_225060968de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,644 | 225,060,968 |
| essv26061619 | Submitted genomic | NC_000001.10:g.225 133346_225248670de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,346 | 225,248,670 |