esv4007543
- 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:39,879
- 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: 550 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4007543 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 247,129,683 | 247,169,561 |
| esv4007543 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 247,292,985 | 247,332,863 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26064089 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26064089 | Remapped | Perfect | NC_000001.11:g.247 129683_247169561du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,129,683 | 247,169,561 |
| essv26064089 | Submitted genomic | NC_000001.10:g.247 292985_247332863du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 247,292,985 | 247,332,863 |