esv3831174
- 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:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,747
- 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: 145 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3831174 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| esv3831174 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv18379216 | copy number loss | HG00176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,419 |
| essv18379217 | copy number loss | HG00308 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,760 |
| essv18379218 | copy number loss | HG00366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,572 |
| essv18379219 | copy number loss | HG00436 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,456 |
| essv18379220 | copy number loss | HG00651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,202 |
| essv18379221 | copy number loss | HG00674 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,692 |
| essv18379222 | copy number loss | HG00708 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,265 |
| essv18379223 | copy number loss | HG01808 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,403 |
| essv18379224 | copy number loss | HG01809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,314 |
| essv18379225 | copy number loss | HG01815 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,397 |
| essv18379226 | copy number loss | HG01851 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,378 |
| essv18379227 | copy number loss | HG02064 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,488 |
| essv18379228 | copy number loss | HG02134 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,620 |
| essv18379229 | copy number loss | HG02165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,305 |
| essv18379230 | copy number loss | HG02181 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,404 |
| essv18379231 | copy number loss | HG02188 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,242 |
| essv18379232 | copy number loss | HG02250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,687 |
| essv18379233 | copy number loss | HG02364 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,660 |
| essv18379234 | copy number loss | HG02367 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,628 |
| essv18379235 | copy number loss | NA18565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,272 |
| essv18379236 | copy number loss | NA18579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,436 |
| essv18379237 | copy number loss | NA18595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,365 |
| essv18379238 | copy number loss | NA18605 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,715 |
| essv18379239 | copy number loss | NA18617 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,347 |
| essv18379240 | copy number loss | NA18647 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,460 |
| essv18379241 | copy number loss | NA18648 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,086 |
| essv18379242 | copy number loss | NA18981 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,135 |
| essv18379243 | copy number loss | NA19056 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,600 |
| essv18379244 | copy number gain | HG02882 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,053 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv18379216 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379217 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379218 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379219 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379220 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379221 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379222 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379223 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379224 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379225 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379226 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379227 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379228 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379229 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379230 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379231 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379232 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379233 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379234 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379235 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379236 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379237 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379238 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379239 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379240 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379241 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379242 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379243 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379244 | Remapped | Perfect | NC_000003.12:g.894 82276_89498022dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,276 | 89,498,022 |
| essv18379216 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379217 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379218 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379219 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379220 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379221 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379222 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379223 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379224 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379225 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379226 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379227 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379228 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379229 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379230 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379231 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379232 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379233 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379234 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379235 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379236 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379237 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379238 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379239 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379240 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379241 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379242 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379243 | Submitted genomic | NC_000003.11:g.895 31426_89547172del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 | ||
| essv18379244 | Submitted genomic | NC_000003.11:g.895 31426_89547172dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,426 | 89,547,172 |