esv2761725
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,591
- Publication(s):Vogler et al. 2010
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: 407 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 406 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 6,682,182 | 6,754,772 |
| esv2761725 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 6,791,348 | 6,863,938 |
| esv2761725 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 6,661,609 | 6,734,199 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6996559 | copy number gain | SW_1431 | SNP array | SNP genotyping analysis | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6996559 | Remapped | Perfect | NC_000012.12:g.(?_ 6682182)_(6754772_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 6,682,182 | 6,754,772 |
| essv6996559 | Remapped | Perfect | NC_000012.11:g.(?_ 6791348)_(6863938_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 6,791,348 | 6,863,938 |
| essv6996559 | Submitted genomic | NC_000012.10:g.(?_ 6661609)_(6734199_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 6,661,609 | 6,734,199 |