esv2830361
- 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:1,009,892
- 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: 4912 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4912 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 1636 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830361 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 1,561,737 | 2,571,628 |
| esv2830361 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 1,603,421 | 2,613,312 |
| esv2830361 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 1,578,421 | 2,588,312 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099929 | deletion | NL13 | Oligo aCGH | Probe signal intensity | Seizure | Likely pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099929 | Remapped | Perfect | NC_000003.12:g.(?_ 1561737)_(2571628_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,561,737 | 2,571,628 |
| essv7099929 | Remapped | Perfect | NC_000003.11:g.(?_ 1603421)_(2613312_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 1,603,421 | 2,613,312 |
| essv7099929 | Submitted genomic | NC_000003.10:g.(?_ 1578421)_(2588312_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 1,578,421 | 2,588,312 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|
| essv7099929 | NL13 | NCBI36: NC_000003.10:g.(?_1578421)_(2588312_?)del | deletion | Seizure | Likely pathogenic | Submitter | Female |