esv2830428
- Organism: Homo sapiens
- Study:estd208 (Helbig et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:102,395
- 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: 425 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 101,802,589 | 101,904,983 |
| esv2830428 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 102,196,367 | 102,298,761 |
| esv2830428 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 100,720,498 | 100,822,892 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7100001 | duplication | K13 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7100001 | Remapped | Perfect | NC_000012.12:g.(?_ 101802589)_(101904 983_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 101,802,589 | 101,904,983 |
| essv7100001 | Remapped | Perfect | NC_000012.11:g.(?_ 102196367)_(102298 761_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 102,196,367 | 102,298,761 |
| essv7100001 | Submitted genomic | NC_000012.10:g.(?_ 100720498)_(100822 892_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 100,720,498 | 100,822,892 |
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 |
|---|---|---|---|---|---|---|---|
| essv7100001 | K13 | NCBI36: NC_000012.10:g.(?_100720498)_(100822892_?)dup | duplication | Seizure | Uncertain significance | Submitter | Male |