esv2830434
- 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:10,704,014
- 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: 36480 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 36491 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 11066 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830434 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 18,324 | 10,722,337 |
| esv2830434 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 60,001 | 10,764,022 |
| esv2830434 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 1 | 10,739,022 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| essv7100009 | deletion | D34 | SNP array | SNP genotyping analysis | Seizure | Pathogenic | Submitter | essv7099959, essv7099926, essv7099925 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7100009 | Remapped | Good | NC_000003.12:g.(?_ 18324)_(10722337_? )del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 18,324 | 10,722,337 |
| essv7100009 | Remapped | Good | NC_000003.11:g.(?_ 60001)_(10764022_? )del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 60,001 | 10,764,022 |
| essv7100009 | Submitted genomic | NC_000003.10:g.(?_ 1)_(10739022_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 1 | 10,739,022 |
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 | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|---|
| essv7100009 | D34 | NCBI36: NC_000003.10:g.(?_1)_(10739022_?)del | deletion | de novo | Seizure | Pathogenic | Submitter | Female | essv7099959, essv7099926, essv7099925 |