esv2830403
- 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:119,109
- 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: 401 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830403 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 81,380,277 | 81,499,385 |
| esv2830403 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 82,292,512 | 82,411,620 |
| esv2830403 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 82,455,067 | 82,574,175 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099973 | deletion | NL47 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099973 | Remapped | Perfect | NC_000008.11:g.(?_ 81380277)_(8149938 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 81,380,277 | 81,499,385 |
| essv7099973 | Remapped | Perfect | NC_000008.10:g.(?_ 82292512)_(8241162 0_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 82,292,512 | 82,411,620 |
| essv7099973 | Submitted genomic | NC_000008.9:g.(?_8 2455067)_(82574175 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 82,455,067 | 82,574,175 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099973 | NL47 | NCBI36: NC_000008.9:g.(?_82455067)_(82574175_?)del | deletion | maternal | Seizure | Uncertain significance | Submitter | Male |