esv2830371
- 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:132,659
- 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: 304 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 135,504,228 | 135,636,886 |
| esv2830371 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 136,261,798 | 136,394,456 |
| esv2830371 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 135,978,268 | 136,110,926 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099941 | duplication | NL23 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099941 | Remapped | Perfect | NC_000002.12:g.(?_ 135504228)_(135636 886_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 135,504,228 | 135,636,886 |
| essv7099941 | Remapped | Perfect | NC_000002.11:g.(?_ 136261798)_(136394 456_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 136,261,798 | 136,394,456 |
| essv7099941 | Submitted genomic | NC_000002.10:g.(?_ 135978268)_(136110 926_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 135,978,268 | 136,110,926 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099941 | NL23 | NCBI36: NC_000002.10:g.(?_135978268)_(136110926_?)dup | duplication | paternal | Seizure | Uncertain significance | Submitter | Female |