esv2830432
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,891,029
- Publication(s):Helbig et al. 2013
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: 48670 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 47911 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 13507 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2830432 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 157,782,406 | 170,673,434 |
| esv2830432 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 158,203,438 | 170,982,522 |
| esv2830432 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 158,123,426 | 170,824,447 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7100007 | deletion | D10 | SNP array | SNP genotyping analysis | Seizure | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7100007 | Remapped | Good | NC_000006.12:g.(?_ 157782406)_(170673 434_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 157,782,406 | 170,673,434 |
| essv7100007 | Remapped | Good | NC_000006.11:g.(?_ 158203438)_(170982 522_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 158,203,438 | 170,982,522 |
| essv7100007 | Submitted genomic | NC_000006.10:g.(?_ 158123426)_(170824 447_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 158,123,426 | 170,824,447 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| essv7100007 | D10 | NCBI36: NC_000006.10:g.(?_158123426)_(170824447_?)del | deletion | de novo | Seizure | Pathogenic | Submitter | Male |