esv3648463
- Organism: Homo sapiens
- Study:estd216 (Kasak et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:169,098
- Description:PLEASE NOTE: The calls represented in this region now have equivalents in the study Clinical Structural Variants (nstd102). Please use the preferred nstd102 variant region accession for this variant; you can find it at top right under "Links to Other Resources" or in the mapping file provided here.
- Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1320 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1320 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3648463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,675,987 | 136,845,084 |
| esv3648463 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,688,230 | 137,857,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| essv16462833 | deletion | SNP array | Probe signal intensity | not provided | ClinVar | SCV000191511 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16462833 | Remapped | Perfect | NC_000008.11:g.(13 6675987_?)_(?_1368 45084)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,987 | 136,845,084 |
| essv16462833 | Submitted genomic | NC_000008.10:g.(13 7688230_?)_(?_1378 57327)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,688,230 | 137,857,327 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|
| essv16462833 | GRCh37: NC_000008.10:g.(137688230_?)_(?_137857327)del | deletion | not provided | ClinVar | SCV000191511 |