esv3827609
- 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:31
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,538
- 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: 281 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3827609 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| esv3827609 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18028740 | deletion | HG00458 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,475 |
| essv18028741 | deletion | HG00536 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,664 |
| essv18028742 | deletion | HG00623 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,429 |
| essv18028743 | deletion | HG00879 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,220 |
| essv18028744 | deletion | HG00881 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,669 |
| essv18028745 | deletion | HG01187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,727 |
| essv18028746 | deletion | HG01342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,550 |
| essv18028747 | deletion | HG01498 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,805 |
| essv18028748 | deletion | HG01805 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,389 |
| essv18028749 | deletion | HG01850 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,368 |
| essv18028750 | deletion | HG01864 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,552 |
| essv18028751 | deletion | HG01893 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,364 |
| essv18028752 | deletion | HG01920 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,547 |
| essv18028753 | deletion | HG01927 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,225 |
| essv18028754 | deletion | HG01953 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,116 |
| essv18028755 | deletion | HG02075 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,497 |
| essv18028756 | deletion | HG02078 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,478 |
| essv18028757 | deletion | HG02250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,687 |
| essv18028758 | deletion | HG02252 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,179 |
| essv18028759 | deletion | HG02260 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,293 |
| essv18028760 | deletion | HG02345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,758 |
| essv18028761 | deletion | HG02386 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,602 |
| essv18028762 | deletion | NA18544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,559 |
| essv18028763 | deletion | NA18567 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,379 |
| essv18028764 | deletion | NA18573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,307 |
| essv18028765 | deletion | NA18596 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,369 |
| essv18028766 | deletion | NA18605 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,715 |
| essv18028767 | deletion | NA18740 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,501 |
| essv18028768 | deletion | NA18993 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,206 |
| essv18028769 | deletion | NA19090 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,402 |
| essv18028770 | deletion | NA19780 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,243 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18028740 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028741 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028742 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028743 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028744 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028745 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028746 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028747 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028748 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028749 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028750 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028751 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028752 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028753 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028754 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028755 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028756 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028757 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028758 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028759 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028760 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028761 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028762 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028763 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028764 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028765 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028766 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028767 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028768 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028769 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028770 | Remapped | Perfect | NC_000002.12:g.193 713840_193748377de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,713,840 | 193,748,377 |
| essv18028740 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028741 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028742 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028743 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028744 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028745 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028746 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028747 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028748 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028749 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028750 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028751 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028752 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028753 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028754 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028755 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028756 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028757 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028758 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028759 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028760 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028761 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028762 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028763 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028764 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028765 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028766 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028767 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028768 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028769 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 | ||
| essv18028770 | Submitted genomic | NC_000002.11:g.194 578564_194613101de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 194,578,564 | 194,613,101 |