esv3865854
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:30
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,588
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 282 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 47 studies. See in: genome view
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Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3865854 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
esv3865854 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv22607521 | copy number loss | HG01865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
essv22607522 | copy number loss | HG02522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,456 |
essv22607523 | copy number gain | HG01889 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,246 |
essv22607524 | copy number gain | HG01953 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,116 |
essv22607525 | copy number gain | HG02465 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,912 |
essv22607526 | copy number gain | HG02557 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,713 |
essv22607527 | copy number gain | HG02562 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,911 |
essv22607528 | copy number gain | HG02568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,026 |
essv22607529 | copy number gain | HG02595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,772 |
essv22607530 | copy number gain | HG02702 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,121 |
essv22607531 | copy number gain | HG02771 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,178 |
essv22607532 | copy number gain | HG02772 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,888 |
essv22607533 | copy number gain | HG02808 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,842 |
essv22607534 | copy number gain | HG02813 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,974 |
essv22607535 | copy number gain | HG02839 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,026 |
essv22607536 | copy number variation | HG02890 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,920 |
essv22607537 | copy number gain | HG02895 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,924 |
essv22607538 | copy number gain | HG03039 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,126 |
essv22607539 | copy number gain | HG03054 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,343 |
essv22607540 | copy number gain | HG03224 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,231 |
essv22607541 | copy number gain | HG03246 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,863 |
essv22607542 | copy number gain | HG03432 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,484 |
essv22607543 | copy number gain | HG03460 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,875 |
essv22607544 | copy number gain | HG03473 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,659 |
essv22607545 | copy number gain | NA07048 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,606 |
essv22607546 | copy number gain | NA19201 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,189 |
essv22607547 | copy number gain | NA20852 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,652 |
essv22607548 | copy number gain | HG02643 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,879 |
essv22607549 | copy number gain | HG02678 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,126 |
essv22607550 | copy number variation | HG02890 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,920 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv22607521 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607522 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607523 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607524 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607525 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607526 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607527 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607528 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607529 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607530 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607531 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607532 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607533 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607534 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607535 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607536 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 | |
essv22607537 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607538 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607539 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607540 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607541 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607542 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607543 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607544 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607545 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607546 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607547 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607548 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607549 | Remapped | Perfect | NC_000011.10:g.126 365411_126381998du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 |
essv22607550 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,365,411 | 126,381,998 | |
essv22607521 | Submitted genomic | NC_000011.9:g.1262 35306_126251893del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607522 | Submitted genomic | NC_000011.9:g.1262 35306_126251893del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607523 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607524 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607525 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607526 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607527 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607528 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607529 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607530 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607531 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607532 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607533 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607534 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607535 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607536 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | |||
essv22607537 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607538 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607539 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607540 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607541 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607542 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607543 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607544 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607545 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607546 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607547 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607548 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607549 | Submitted genomic | NC_000011.9:g.1262 35306_126251893dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 | ||
essv22607550 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,235,306 | 126,251,893 |