esv3648692
- 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:74,536
- 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: 455 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 579 SVs from 67 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
esv3648692 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | - | 89,764,094 | 89,838,629 |
esv3648692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 90,387,429 | - | 90,490,883 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
essv16463040 | duplication | SNP array | Probe signal intensity | not provided | ClinVar | SCV000191675 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
essv16463040 | Remapped | Pass | NC_000013.11:g.(?_ 89764094)_(?_89838 629)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | - | 89,764,094 | 89,838,629 |
essv16463040 | Submitted genomic | NC_000013.10:g.(90 387429_?)_(?_90490 883)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 90,387,429 | - | 90,490,883 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|
essv16463040 | GRCh37: NC_000013.10:g.(90387429_?)_(?_90490883)dup | duplication | not provided | ClinVar | SCV000191675 |