esv2673771
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:42,422
- 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: 411 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2673771 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
esv2673771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5482290 | deletion | SAMN00001301 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 779 |
essv5648002 | deletion | SAMN00006357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,585 |
essv5717205 | deletion | SAMN00014342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,537 |
essv5821970 | deletion | SAMN00007704 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
essv5840920 | deletion | SAMN00000403 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 878 |
essv6303921 | deletion | SAMN00001269 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 881 |
essv6318193 | deletion | SAMN00004643 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,095 |
essv6500328 | deletion | SAMN00001525 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,320 |
essv6516645 | deletion | SAMN00007792 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,081 |
essv6597431 | deletion | SAMN00009186 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,372 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5482290 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv5648002 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv5717205 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv5821970 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv5840920 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv6303921 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv6318193 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv6500328 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv6516645 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv6597431 | Remapped | Perfect | NC_000003.12:g.165 323153_165365574de lTATAT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,323,153 | 165,365,574 |
essv5482290 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv5648002 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv5717205 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv5821970 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv5840920 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv6303921 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv6318193 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv6500328 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv6516645 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 | ||
essv6597431 | Submitted genomic | NC_000003.11:g.165 040941_165083362de lTATAT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,040,941 | 165,083,362 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5840920 | 7 | SAMN00000403 | SNP array | Probe signal intensity | Pass |
essv6303921 | 7 | SAMN00001269 | SNP array | Probe signal intensity | Pass |
essv5482290 | 7 | SAMN00001301 | SNP array | Probe signal intensity | Pass |
essv6500328 | 7 | SAMN00001525 | SNP array | Probe signal intensity | Pass |
essv6318193 | 7 | SAMN00004643 | SNP array | Probe signal intensity | Pass |
essv5648002 | 7 | SAMN00006357 | SNP array | Probe signal intensity | Pass |
essv5821970 | 7 | SAMN00007704 | SNP array | Probe signal intensity | Pass |
essv6516645 | 7 | SAMN00007792 | SNP array | Probe signal intensity | Pass |
essv6597431 | 7 | SAMN00009186 | SNP array | Probe signal intensity | Pass |
essv5717205 | 7 | SAMN00014342 | SNP array | Probe signal intensity | Pass |