esv2830364
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:438,352
- 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: 1518 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1518 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830364 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 114,042,321 | 114,480,672 |
| esv2830364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 114,963,477 | 115,401,828 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099932 | deletion | NL15 | SNP array | SNP genotyping analysis | Seizure | Uncertain significance | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099932 | Remapped | Perfect | NC_000004.12:g.(?_ 114042321)_(114480 672_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 114,042,321 | 114,480,672 |
| essv7099932 | Submitted genomic | NC_000004.11:g.(?_ 114963477)_(115401 828_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 114,963,477 | 115,401,828 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099932 | NL15 | GRCh37: NC_000004.11:g.(?_114963477)_(115401828_?)del | deletion | maternal | Seizure | Uncertain significance | Submitter | Female |