esv2661780
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:24,649
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 396 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2661780 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 4,988,192 | 4,988,229 | 5,012,790 | 5,012,840 |
| esv2661780 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 4,988,191 | 4,988,228 | 5,012,789 | 5,012,839 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5993152 | deletion | SAMN00001265 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 933 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5993152 | Remapped | Perfect | NC_000018.10:g.(49 88192_4988229)_(50 12790_5012840)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,988,192 | 4,988,229 | 5,012,790 | 5,012,840 |
| essv5993152 | Submitted genomic | NC_000018.9:g.(498 8191_4988228)_(501 2789_5012839)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,988,191 | 4,988,228 | 5,012,789 | 5,012,839 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5993152 | 7 | SAMN00001265 | SNP array | Probe signal intensity | Pass |