esv2740987
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,065
- Publication(s):Wong et al. 2013
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: 1500 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1282 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1418 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2740987 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,065,625 | 142,094,689 |
| esv2740987 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,505 | 56,569 |
| esv2740987 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 141,765,425 | 141,794,489 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6698147 | deletion | SSM038 | Sequencing | Paired-end mapping | 2,327 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6698147 | Remapped | Perfect | NT_187562.1:g.(275 05_?)_(?_56569)del | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,505 | 56,569 |
| essv6698147 | Remapped | Perfect | NC_000007.14:g.(14 2065625_?)_(?_1420 94689)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,625 | 142,094,689 |
| essv6698147 | Submitted genomic | NC_000007.13:g.(14 1765425_?)_(?_1417 94489)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,425 | 141,794,489 |