esv2830409
- 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:102,956
- 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: 597 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 597 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 240 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830409 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,508,302 | 142,611,257 |
| esv2830409 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 143,589,663 | 143,692,618 |
| esv2830409 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 143,586,665 | 143,689,620 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099979 | deletion | NL52 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099979 | Remapped | Perfect | NC_000008.11:g.(?_ 142508302)_(142611 257_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,508,302 | 142,611,257 |
| essv7099979 | Remapped | Perfect | NC_000008.10:g.(?_ 143589663)_(143692 618_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 143,589,663 | 143,692,618 |
| essv7099979 | Submitted genomic | NC_000008.9:g.(?_1 43586665)_(1436896 20_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 143,586,665 | 143,689,620 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099979 | NL52 | NCBI36: NC_000008.9:g.(?_143586665)_(143689620_?)del | deletion | paternal | Seizure | Uncertain significance | Submitter | Female |