esv2830363
- 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:661,544
- 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: 1798 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1798 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 525 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 58,598,122 | 59,259,665 |
| esv2830363 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 57,893,949 | 58,555,491 |
| esv2830363 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 57,929,706 | 58,591,248 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099931 | deletion | NL14 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099931 | Remapped | Perfect | NC_000005.10:g.(?_ 58598122)_(5925966 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 58,598,122 | 59,259,665 |
| essv7099931 | Remapped | Perfect | NC_000005.9:g.(?_5 7893949)_(58555491 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 57,893,949 | 58,555,491 |
| essv7099931 | Submitted genomic | NC_000005.8:g.(?_5 7929706)_(58591248 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 57,929,706 | 58,591,248 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099931 | NL14 | NCBI36: NC_000005.8:g.(?_57929706)_(58591248_?)del | deletion | de novo | Seizure | Pathogenic | Submitter | Female |