esv3648670
- 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:259,367
- 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: 697 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 697 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3648670 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 135,214,523 | 135,473,889 |
| esv3648670 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 135,972,093 | 136,231,459 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| essv16462427 | duplication | SNP array | Probe signal intensity | not provided | ClinVar | SCV000191187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16462427 | Remapped | Perfect | NC_000002.12:g.(13 5214523_?)_(?_1354 73889)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 135,214,523 | 135,473,889 |
| essv16462427 | Submitted genomic | NC_000002.11:g.(13 5972093_?)_(?_1362 31459)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 135,972,093 | 136,231,459 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|
| essv16462427 | GRCh37: NC_000002.11:g.(135972093_?)_(?_136231459)dup | duplication | not provided | ClinVar | SCV000191187 |