esv2830425
- 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:102,976
- 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: 338 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830425 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 35,464,112 | 35,567,087 |
| esv2830425 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 36,038,249 | 36,141,224 |
| esv2830425 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 34,936,249 | 35,039,224 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099998 | deletion | NL74 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099998 | Remapped | Perfect | NC_000013.11:g.(?_ 35464112)_(3556708 7_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 35,464,112 | 35,567,087 |
| essv7099998 | Remapped | Perfect | NC_000013.10:g.(?_ 36038249)_(3614122 4_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 36,038,249 | 36,141,224 |
| essv7099998 | Submitted genomic | NC_000013.9:g.(?_3 4936249)_(35039224 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 34,936,249 | 35,039,224 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099998 | NL74 | NCBI36: NC_000013.9:g.(?_34936249)_(35039224_?)del | deletion | de novo | Seizure | Pathogenic | Submitter | Male |