esv2663448
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,031
- 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: 373 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2663448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| esv2663448 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| esv2663448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5413644 | deletion | SAMN00007803 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,683 |
| essv5528481 | deletion | SAMN00000403 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 878 |
| essv5608306 | deletion | SAMN00014348 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,196 |
| essv5639694 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv5647732 | deletion | SAMN00009102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,564 |
| essv5846128 | deletion | SAMN00006354 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,150 |
| essv5861368 | deletion | SAMN00009240 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv5888558 | deletion | SAMN00801356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 966 |
| essv5895443 | deletion | SAMN00797406 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,361 |
| essv5991909 | deletion | SAMN00006364 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,394 |
| essv6043563 | deletion | SAMN00001291 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 709 |
| essv6081090 | deletion | SAMN00006361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,388 |
| essv6105072 | deletion | SAMN00000811 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 958 |
| essv6147359 | deletion | SAMN00014336 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,557 |
| essv6149527 | deletion | SAMN00004657 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,536 |
| essv6289279 | deletion | SAMN00004656 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
| essv6298949 | deletion | SAMN00001229 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 868 |
| essv6347082 | deletion | SAMN00004655 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv6453353 | deletion | SAMN00009145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,845 |
| essv6503463 | deletion | SAMN00004638 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
| essv6515642 | deletion | SAMN00009089 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,584 |
| essv6523565 | deletion | SAMN00001287 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 874 |
| essv6577124 | deletion | SAMN00001669 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5413644 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5528481 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5608306 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5639694 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5647732 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5846128 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5861368 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5888558 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5895443 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5991909 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6043563 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6081090 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6105072 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6147359 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6149527 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6289279 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6298949 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6347082 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6453353 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6503463 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6515642 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6523565 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv6577124 | Remapped | Perfect | NW_011332696.1:g.3 47538_358568del45 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,538 | 358,568 |
| essv5413644 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5528481 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5608306 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5639694 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5647732 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5846128 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5861368 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5888558 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5895443 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5991909 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6043563 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6081090 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6105072 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6147359 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6149527 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6289279 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6298949 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6347082 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6453353 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6503463 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6515642 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6523565 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv6577124 | Remapped | Perfect | NC_000012.12:g.123 78536_12389566del4 5 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,536 | 12,389,566 |
| essv5413644 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5528481 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5608306 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5639694 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5647732 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5846128 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5861368 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5888558 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5895443 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv5991909 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6043563 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6081090 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6105072 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6147359 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6149527 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6289279 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6298949 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6347082 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6453353 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6503463 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6515642 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6523565 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 | ||
| essv6577124 | Submitted genomic | NC_000012.11:g.125 31470_12542500del4 5 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,470 | 12,542,500 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5528481 | 7 | SAMN00000403 | SNP array | Probe signal intensity | Pass |
| essv5639694 | 7 | SAMN00000475 | SNP array | Probe signal intensity | Pass |
| essv6105072 | 7 | SAMN00000811 | SNP array | Probe signal intensity | Pass |
| essv6298949 | 7 | SAMN00001229 | SNP array | Probe signal intensity | Pass |
| essv6523565 | 7 | SAMN00001287 | SNP array | Probe signal intensity | Pass |
| essv6043563 | 7 | SAMN00001291 | SNP array | Probe signal intensity | Pass |
| essv6577124 | 7 | SAMN00001669 | SNP array | Probe signal intensity | Pass |
| essv6503463 | 7 | SAMN00004638 | SNP array | Probe signal intensity | Pass |
| essv6347082 | 7 | SAMN00004655 | SNP array | Probe signal intensity | Pass |
| essv6289279 | 7 | SAMN00004656 | SNP array | Probe signal intensity | Pass |
| essv6149527 | 7 | SAMN00004657 | SNP array | Probe signal intensity | Pass |
| essv5846128 | 7 | SAMN00006354 | SNP array | Probe signal intensity | Pass |
| essv6081090 | 7 | SAMN00006361 | SNP array | Probe signal intensity | Pass |
| essv5991909 | 7 | SAMN00006364 | SNP array | Probe signal intensity | Pass |
| essv5413644 | 7 | SAMN00007803 | SNP array | Probe signal intensity | Pass |
| essv6515642 | 7 | SAMN00009089 | SNP array | Probe signal intensity | Pass |
| essv5647732 | 7 | SAMN00009102 | SNP array | Probe signal intensity | Pass |
| essv6453353 | 7 | SAMN00009145 | SNP array | Probe signal intensity | Pass |
| essv5861368 | 7 | SAMN00009240 | SNP array | Probe signal intensity | Pass |
| essv6147359 | 7 | SAMN00014336 | SNP array | Probe signal intensity | Pass |
| essv5608306 | 7 | SAMN00014348 | SNP array | Probe signal intensity | Pass |
| essv5895443 | 7 | SAMN00797406 | SNP array | Probe signal intensity | Pass |
| essv5888558 | 7 | SAMN00801356 | SNP array | Probe signal intensity | Pass |