esv2830381
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:105,428
- 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: 428 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 10,699,246 | 10,804,673 |
| esv2830381 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 10,602,563 | 10,707,990 |
| esv2830381 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 10,543,288 | 10,648,715 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099951 | deletion | NL31 | Oligo aCGH | Probe signal intensity | Seizure | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099951 | Remapped | Perfect | NC_000017.11:g.(?_ 10699246)_(1080467 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 10,699,246 | 10,804,673 |
| essv7099951 | Remapped | Perfect | NC_000017.10:g.(?_ 10602563)_(1070799 0_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 10,602,563 | 10,707,990 |
| essv7099951 | Submitted genomic | NC_000017.9:g.(?_1 0543288)_(10648715 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 10,543,288 | 10,648,715 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099951 | NL31 | NCBI36: NC_000017.9:g.(?_10543288)_(10648715_?)del | deletion | de novo | Seizure | Pathogenic | Submitter | Female |