esv2754312
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:534,101
- Publication(s):Pinto et al. 2007
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: 4265 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 4265 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2754312 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,497,031 | 38,031,131 |
| esv2754312 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 37,890,833 | 38,424,933 |
| esv2754312 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 36,177,100 | 36,711,200 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6984296 | copy number gain | BEC_687 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6984296 | Remapped | Perfect | NC_000012.12:g.(?_ 37497031)_(3803113 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,497,031 | 38,031,131 |
| essv6984296 | Remapped | Perfect | NC_000012.11:g.(?_ 37890833)_(3842493 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,890,833 | 38,424,933 |
| essv6984296 | Submitted genomic | NC_000012.9:g.(?_3 6177100)_(36711200 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 36,177,100 | 36,711,200 |