esv3648650
- 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:60,817
- 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: 286 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3648650 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 124,776,099 | 124,836,915 |
| esv3648650 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 125,260,645 | 125,321,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| essv16463002 | duplication | SNP array | Probe signal intensity | not provided | ClinVar | SCV000191645 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16463002 | Remapped | Perfect | NC_000012.12:g.(12 4776099_?)_(?_1248 36915)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 124,776,099 | 124,836,915 |
| essv16463002 | Submitted genomic | NC_000012.11:g.(12 5260645_?)_(?_1253 21461)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 125,260,645 | 125,321,461 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|
| essv16463002 | GRCh37: NC_000012.11:g.(125260645_?)_(?_125321461)dup | duplication | not provided | ClinVar | SCV000191645 |