esv2830429
- 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:244,620
- 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: 753 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830429 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 182,436,032 | 182,680,651 |
| esv2830429 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 183,300,759 | 183,545,378 |
| esv2830429 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 183,009,004 | 183,253,623 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| essv7100003 | deletion | K22 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7100003 | Remapped | Perfect | NC_000002.12:g.(?_ 182436032)_(182680 651_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 182,436,032 | 182,680,651 |
| essv7100003 | Remapped | Perfect | NC_000002.11:g.(?_ 183300759)_(183545 378_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 183,300,759 | 183,545,378 |
| essv7100003 | Submitted genomic | NC_000002.10:g.(?_ 183009004)_(183253 623_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 183,009,004 | 183,253,623 |
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 |
|---|---|---|---|---|---|---|---|
| essv7100003 | K22 | NCBI36: NC_000002.10:g.(?_183009004)_(183253623_?)del | deletion | Seizure | Uncertain significance | Submitter | Male |