esv4005105
- 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:47,908
- 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: 765 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 438 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 763 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4005105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,688,256 | 49,736,163 |
| esv4005105 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,437 | 200,312 |
| esv4005105 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 49,709,808 | 49,757,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26061895 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26061895 | Remapped | Good | NW_019805495.1:g.1 52437_200312del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,437 | 200,312 |
| essv26061895 | Remapped | Perfect | NC_000011.10:g.496 88256_49736163del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,256 | 49,736,163 |
| essv26061895 | Submitted genomic | NC_000011.9:g.4970 9808_49757715del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,709,808 | 49,757,715 |