esv3833734
- 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:36
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,196
- 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: 331 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3833734 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| esv3833734 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18692687 | copy number loss | HG00419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,432 |
| essv18692688 | copy number loss | HG01251 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,726 |
| essv18692689 | copy number loss | HG01776 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,092 |
| essv18692690 | copy number loss | HG01845 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,342 |
| essv18692691 | copy number loss | HG01847 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,298 |
| essv18692692 | copy number loss | HG01950 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,545 |
| essv18692693 | copy number loss | HG01968 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,970 |
| essv18692694 | copy number loss | HG02136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,103 |
| essv18692695 | copy number loss | HG02252 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,179 |
| essv18692696 | copy number loss | HG02266 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,877 |
| essv18692697 | copy number loss | HG02756 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,082 |
| essv18692698 | copy number loss | NA07051 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,300 |
| essv18692699 | copy number loss | NA18638 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,671 |
| essv18692700 | copy number loss | NA19723 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,529 |
| essv18692701 | copy number loss | NA19726 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,482 |
| essv18692702 | copy number loss | NA19729 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,001 |
| essv18692703 | copy number loss | NA19735 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,424 |
| essv18692704 | copy number loss | NA19746 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,725 |
| essv18692705 | copy number loss | NA19789 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,596 |
| essv18692706 | copy number gain | HG00707 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,461 |
| essv18692707 | copy number gain | HG01883 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,989 |
| essv18692708 | copy number gain | HG02009 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,242 |
| essv18692709 | copy number gain | HG02879 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,016 |
| essv18692710 | copy number gain | HG03096 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,144 |
| essv18692711 | copy number gain | HG03135 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,987 |
| essv18692712 | copy number gain | HG03565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,945 |
| essv18692713 | copy number gain | HG03680 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,578 |
| essv18692714 | copy number gain | HG03771 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,588 |
| essv18692715 | copy number gain | HG03944 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,156 |
| essv18692716 | copy number gain | HG03968 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,229 |
| essv18692717 | copy number gain | HG04070 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,260 |
| essv18692718 | copy number gain | NA18877 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,288 |
| essv18692719 | copy number gain | NA19092 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,988 |
| essv18692720 | copy number gain | NA19172 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,436 |
| essv18692721 | copy number gain | NA19238 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,190 |
| essv18692722 | copy number gain | NA19384 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,966 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18692687 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692688 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692689 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692690 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692691 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692692 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692693 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692694 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692695 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692696 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692697 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692698 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692699 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692700 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692701 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692702 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692703 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692704 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692705 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692706 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692707 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692708 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692709 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692710 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692711 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692712 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692713 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692714 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692715 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692716 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692717 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692718 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692719 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692720 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692721 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692722 | Remapped | Perfect | NC_000003.12:g.195 940607_195950802du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,940,607 | 195,950,802 |
| essv18692687 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692688 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692689 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692690 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692691 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692692 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692693 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692694 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692695 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692696 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692697 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692698 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692699 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692700 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692701 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692702 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692703 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692704 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692705 | Submitted genomic | NC_000003.11:g.195 667478_195677673de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692706 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692707 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692708 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692709 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692710 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692711 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692712 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692713 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692714 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692715 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692716 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692717 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692718 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692719 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692720 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692721 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 | ||
| essv18692722 | Submitted genomic | NC_000003.11:g.195 667478_195677673du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,667,478 | 195,677,673 |