esv2761723
- 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:65,057
- 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: 311 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761723 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 3,987,649 | 4,052,705 |
| esv2761723 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 4,096,815 | 4,161,871 |
| esv2761723 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 3,967,076 | 4,032,132 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6996557 | copy number gain | SW_1227 | SNP array | SNP genotyping analysis | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6996557 | Remapped | Perfect | NC_000012.12:g.(?_ 3987649)_(4052705_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 3,987,649 | 4,052,705 |
| essv6996557 | Remapped | Perfect | NC_000012.11:g.(?_ 4096815)_(4161871_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 4,096,815 | 4,161,871 |
| essv6996557 | Submitted genomic | NC_000012.10:g.(?_ 3967076)_(4032132_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 3,967,076 | 4,032,132 |