esv3584665
- 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:54,850
- 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: 895 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 896 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 423 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584665 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,328,332 | 11,383,181 |
| esv3584665 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 523,295 | 572,349 |
| esv3584665 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 11,481,266 | 11,536,115 |
| esv3584665 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 11,372,533 | 11,427,382 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838691 | copy number gain | B10 | SNP array | Probe signal intensity | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838691 | Remapped | Pass | NT_187658.1:g.(?_5 23295)_(572349_?)d up | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 523,295 | 572,349 |
| essv9838691 | Remapped | Perfect | NC_000012.12:g.(?_ 11328332)_(1138318 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,328,332 | 11,383,181 |
| essv9838691 | Remapped | Perfect | NC_000012.11:g.(?_ 11481266)_(1153611 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,481,266 | 11,536,115 |
| essv9838691 | Submitted genomic | NC_000012.10:g.(?_ 11372533)_(1142738 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,372,533 | 11,427,382 |