esv3584601
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:206,565
- Publication(s):Mokhtar et al. 2014
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: 2498 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2655 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1486 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584601 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 143,541,857 | 143,748,421 |
| esv3584601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 149,036,524 | 149,243,072 |
| esv3584601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 147,303,148 | 147,509,696 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838932 | copy number loss | KSM008 | SNP array | Probe signal intensity | 54 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838932 | Remapped | Good | NC_000001.11:g.(?_ 143541857)_(143748 421_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 143,541,857 | 143,748,421 |
| essv9838932 | Remapped | Perfect | NC_000001.10:g.(?_ 149036524)_(149243 072_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 149,036,524 | 149,243,072 |
| essv9838932 | Submitted genomic | NC_000001.9:g.(?_1 47303148)_(1475096 96_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 147,303,148 | 147,509,696 |