esv3821328
- 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:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,615
- 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: 388 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3821328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| esv3821328 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv17336782 | deletion | HG01890 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,271 |
| essv17336783 | deletion | HG01990 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,201 |
| essv17336784 | deletion | HG02284 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,143 |
| essv17336785 | deletion | HG02555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,911 |
| essv17336786 | deletion | HG02621 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,967 |
| essv17336787 | deletion | HG02757 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,898 |
| essv17336788 | deletion | HG02839 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,026 |
| essv17336789 | deletion | HG02979 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,876 |
| essv17336790 | deletion | HG03100 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,044 |
| essv17336791 | deletion | HG03115 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,012 |
| essv17336792 | deletion | HG03118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,903 |
| essv17336793 | deletion | HG03313 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,432 |
| essv17336794 | deletion | HG03343 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,816 |
| essv17336795 | deletion | HG03352 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,461 |
| essv17336796 | deletion | HG03457 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,400 |
| essv17336797 | deletion | HG03476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,858 |
| essv17336798 | deletion | HG03558 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,190 |
| essv17336799 | deletion | NA18488 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,792 |
| essv17336800 | deletion | NA19121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,028 |
| essv17336801 | deletion | NA19160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,618 |
| essv17336802 | deletion | NA19210 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,283 |
| essv17336803 | deletion | NA19394 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,957 |
| essv17336804 | deletion | NA19984 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,753 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17336782 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336783 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336784 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336785 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336786 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336787 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336788 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336789 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336790 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336791 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336792 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336793 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336794 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336795 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336796 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336797 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336798 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336799 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336800 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336801 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336802 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336803 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336804 | Remapped | Perfect | NC_000001.11:g.(17 8690489_178690495) _(178707103_178707 109)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,690,492 (-3, +3) | 178,707,106 (-3, +3) |
| essv17336782 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336783 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336784 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336785 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336786 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336787 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336788 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336789 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336790 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336791 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336792 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336793 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336794 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336795 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336796 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336797 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336798 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336799 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336800 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336801 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336802 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336803 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) | ||
| essv17336804 | Submitted genomic | NC_000001.10:g.(17 8659624_178659630) _(178676238_178676 244)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,659,627 (-3, +3) | 178,676,241 (-3, +3) |