esv2830437
- 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:424,761
- 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: 1119 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1119 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830437 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 56,873,617 | 57,298,377 |
| esv2830437 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 57,340,335 | 57,765,095 |
| esv2830437 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 56,410,088 | 56,834,848 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099926 | duplication | D34 | SNP array | SNP genotyping analysis | Seizure | Uncertain significance | Submitter | essv7099959, essv7099925, essv7100009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099926 | Remapped | Perfect | NC_000014.9:g.(?_5 6873617)_(57298377 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 56,873,617 | 57,298,377 |
| essv7099926 | Remapped | Perfect | NC_000014.8:g.(?_5 7340335)_(57765095 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 57,340,335 | 57,765,095 |
| essv7099926 | Submitted genomic | NC_000014.7:g.(?_5 6410088)_(56834848 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 56,410,088 | 56,834,848 |
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 | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| essv7099926 | D34 | NCBI36: NC_000014.7:g.(?_56410088)_(56834848_?)dup | duplication | Seizure | Uncertain significance | Submitter | Female | essv7099959, essv7099925, essv7100009 |