esv2830419
- 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:119,774
- 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: 486 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 486 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 128,864,328 | 128,984,101 |
| esv2830419 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 129,785,483 | 129,905,256 |
| esv2830419 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 130,004,933 | 130,124,706 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099990 | duplication | NL63 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099990 | Remapped | Perfect | NC_000004.12:g.(?_ 128864328)_(128984 101_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 128,864,328 | 128,984,101 |
| essv7099990 | Remapped | Perfect | NC_000004.11:g.(?_ 129785483)_(129905 256_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 129,785,483 | 129,905,256 |
| essv7099990 | Submitted genomic | NC_000004.10:g.(?_ 130004933)_(130124 706_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 130,004,933 | 130,124,706 |
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 |
|---|---|---|---|---|---|---|---|
| essv7099990 | NL63 | NCBI36: NC_000004.10:g.(?_130004933)_(130124706_?)dup | duplication | Seizure | Uncertain significance | Submitter | Female |