esv2830420
- 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:120,792
- 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: 727 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 729 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 381 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830420 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 1,998,911 | 2,119,702 |
| esv2830420 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 1,998,911 | 2,119,702 |
| esv2830420 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 1,988,911 | 2,109,702 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099993 | duplication | NL66 | Oligo aCGH | Probe signal intensity | Seizure | Uncertain significance | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099993 | Remapped | Perfect | NC_000009.12:g.(?_ 1998911)_(2119702_ ?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 1,998,911 | 2,119,702 |
| essv7099993 | Remapped | Perfect | NC_000009.11:g.(?_ 1998911)_(2119702_ ?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 1,998,911 | 2,119,702 |
| essv7099993 | Submitted genomic | NC_000009.10:g.(?_ 1988911)_(2109702_ ?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 1,988,911 | 2,109,702 |
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 |
|---|---|---|---|---|---|---|---|
| essv7099993 | NL66 | NCBI36: NC_000009.10:g.(?_1988911)_(2109702_?)dup | duplication | Seizure | Uncertain significance | Submitter | Male |