esv2674663
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:131,296
- 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: 685 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2674663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 152,810,256 | 152,941,551 |
| esv2674663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 153,666,770 | 153,798,065 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5998292 | deletion | SAMN00000528 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
| essv6240054 | deletion | SAMN00000435 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,556 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5998292 | Remapped | Perfect | NC_000002.12:g.152 810256_152941551de lC | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 152,810,256 | 152,941,551 |
| essv6240054 | Remapped | Perfect | NC_000002.12:g.152 810256_152941551de lC | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 152,810,256 | 152,941,551 |
| essv5998292 | Submitted genomic | NC_000002.11:g.153 666770_153798065de lC | GRCh37 (hg19) | NC_000002.11 | Chr2 | 153,666,770 | 153,798,065 | ||
| essv6240054 | Submitted genomic | NC_000002.11:g.153 666770_153798065de lC | GRCh37 (hg19) | NC_000002.11 | Chr2 | 153,666,770 | 153,798,065 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6240054 | 7 | SAMN00000435 | SNP array | Probe signal intensity | Pass |
| essv5998292 | 7 | SAMN00000528 | SNP array | Probe signal intensity | Pass |