esv3584540
- 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:27,375
- 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: 703 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 481 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 483 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 754 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584540 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 43,902 | 71,276 |
| esv3584540 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1 | 27,375 |
| esv3584540 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 36,223 | 63,597 |
| esv3584540 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 43,259 | 71,276 |
| esv3584540 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 138,342 | 166,359 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838491 | copy number gain | 3LK | SNP array | Probe signal intensity | 33 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838491 | Remapped | Good | NT_187558.1:g.(?_1 )_(27375_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1 | 27,375 |
| essv9838491 | Remapped | Good | NT_187653.1:g.(?_3 6223)_(63597_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 36,223 | 63,597 |
| essv9838491 | Remapped | Good | NC_000007.14:g.(?_ 43902)_(71276_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,902 | 71,276 |
| essv9838491 | Remapped | Perfect | NC_000007.13:g.(?_ 43259)_(71276_?)du p | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 43,259 | 71,276 |
| essv9838491 | Submitted genomic | NC_000007.12:g.(?_ 138342)_(166359_?) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 138,342 | 166,359 |