esv2830379
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:119,865
- 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: 1094 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1094 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830379 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,487,495 | 131,607,359 |
| esv2830379 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 131,972,040 | 132,091,904 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7099950 | duplication | NL29 | SNP array | SNP genotyping analysis | Seizure | Uncertain significance | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099950 | Remapped | Perfect | NC_000012.12:g.(?_ 131487495)_(131607 359_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,487,495 | 131,607,359 |
| essv7099950 | Submitted genomic | NC_000012.11:g.(?_ 131972040)_(132091 904_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 131,972,040 | 132,091,904 |
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 |
|---|---|---|---|---|---|---|---|---|
| essv7099950 | NL29 | GRCh37: NC_000012.11:g.(?_131972040)_(132091904_?)dup | duplication | maternal | Seizure | Uncertain significance | Submitter | Male |