esv4006296
- 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:67,080
- 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: 499 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 499 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4006296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 22,008,406 | 22,075,485 |
| esv4006296 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,553 | 1,096,632 |
| esv4006296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 22,019,727 | 22,086,806 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26062966 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26062966 | Remapped | Perfect | NW_017852933.1:g.1 029553_1096632del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,553 | 1,096,632 |
| essv26062966 | Remapped | Perfect | NC_000016.10:g.220 08406_22075485del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,406 | 22,075,485 |
| essv26062966 | Submitted genomic | NC_000016.9:g.2201 9727_22086806del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,727 | 22,086,806 |