esv2668741
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,138
- 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: 264 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2668741 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 194,447,498 | 194,461,635 |
| esv2668741 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 195,312,222 | 195,326,359 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5428473 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv5429502 | deletion | SAMN00009119 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,790 |
| essv5657052 | deletion | SAMN00001134 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,508 |
| essv6408101 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5428473 | Remapped | Perfect | NC_000002.12:g.194 447498_194461635de lG | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 194,447,498 | 194,461,635 |
| essv5429502 | Remapped | Perfect | NC_000002.12:g.194 447498_194461635de lG | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 194,447,498 | 194,461,635 |
| essv5657052 | Remapped | Perfect | NC_000002.12:g.194 447498_194461635de lG | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 194,447,498 | 194,461,635 |
| essv6408101 | Remapped | Perfect | NC_000002.12:g.194 447498_194461635de lG | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 194,447,498 | 194,461,635 |
| essv5428473 | Submitted genomic | NC_000002.11:g.195 312222_195326359de lG | GRCh37 (hg19) | NC_000002.11 | Chr2 | 195,312,222 | 195,326,359 | ||
| essv5429502 | Submitted genomic | NC_000002.11:g.195 312222_195326359de lG | GRCh37 (hg19) | NC_000002.11 | Chr2 | 195,312,222 | 195,326,359 | ||
| essv5657052 | Submitted genomic | NC_000002.11:g.195 312222_195326359de lG | GRCh37 (hg19) | NC_000002.11 | Chr2 | 195,312,222 | 195,326,359 | ||
| essv6408101 | Submitted genomic | NC_000002.11:g.195 312222_195326359de lG | GRCh37 (hg19) | NC_000002.11 | Chr2 | 195,312,222 | 195,326,359 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5657052 | 7 | SAMN00001134 | SNP array | Probe signal intensity | Pass |
| essv6408101 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
| essv5428473 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv5429502 | 7 | SAMN00009119 | SNP array | Probe signal intensity | Pass |