esv2672976
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:16
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,345
- 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: 183 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2672976 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| esv2672976 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5404640 | deletion | SAMN00001238 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 882 |
| essv5730395 | deletion | SAMN00006534 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 915 |
| essv5776782 | deletion | SAMN00797406 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,361 |
| essv6017755 | deletion | SAMN00006357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,585 |
| essv6046995 | deletion | SAMN00001306 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 752 |
| essv6060627 | deletion | SAMN00009189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
| essv6100996 | deletion | SAMN00009122 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,848 |
| essv6148210 | deletion | SAMN00001237 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 844 |
| essv6176755 | deletion | SAMN00001227 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,193 |
| essv6252884 | deletion | SAMN00006359 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
| essv6260517 | deletion | SAMN00004667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 867 |
| essv6349862 | deletion | SAMN00797025 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,381 |
| essv6383554 | deletion | SAMN00009088 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
| essv6404974 | deletion | SAMN00797164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 962 |
| essv6435764 | deletion | SAMN00006365 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv6493770 | deletion | SAMN00009159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,606 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5404640 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv5730395 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv5776782 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6017755 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6046995 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6060627 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6100996 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6148210 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6176755 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6252884 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6260517 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6349862 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6383554 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6404974 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6435764 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv6493770 | Remapped | Perfect | NC_000007.14:g.485 41698_48553042del3 0 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,541,698 | 48,553,042 |
| essv5404640 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv5730395 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv5776782 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6017755 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6046995 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6060627 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6100996 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6148210 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6176755 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6252884 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6260517 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6349862 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6383554 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6404974 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6435764 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 | ||
| essv6493770 | Submitted genomic | NC_000007.13:g.485 81294_48592638del3 0 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 48,581,294 | 48,592,638 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6176755 | 7 | SAMN00001227 | SNP array | Probe signal intensity | Pass |
| essv6148210 | 7 | SAMN00001237 | SNP array | Probe signal intensity | Pass |
| essv5404640 | 7 | SAMN00001238 | SNP array | Probe signal intensity | Pass |
| essv6046995 | 7 | SAMN00001306 | SNP array | Probe signal intensity | Pass |
| essv6260517 | 7 | SAMN00004667 | SNP array | Probe signal intensity | Pass |
| essv6017755 | 7 | SAMN00006357 | SNP array | Probe signal intensity | Pass |
| essv6252884 | 7 | SAMN00006359 | SNP array | Probe signal intensity | Pass |
| essv6435764 | 7 | SAMN00006365 | SNP array | Probe signal intensity | Pass |
| essv5730395 | 7 | SAMN00006534 | SNP array | Probe signal intensity | Pass |
| essv6383554 | 7 | SAMN00009088 | SNP array | Probe signal intensity | Pass |
| essv6100996 | 7 | SAMN00009122 | SNP array | Probe signal intensity | Pass |
| essv6493770 | 7 | SAMN00009159 | SNP array | Probe signal intensity | Pass |
| essv6060627 | 7 | SAMN00009189 | SNP array | Probe signal intensity | Pass |
| essv6349862 | 7 | SAMN00797025 | SNP array | Probe signal intensity | Pass |
| essv6404974 | 7 | SAMN00797164 | SNP array | Probe signal intensity | Pass |
| essv5776782 | 7 | SAMN00797406 | SNP array | Probe signal intensity | Pass |