esv3878553
- 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:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,534
- 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: 471 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 471 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3878553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| esv3878553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24108068 | copy number loss | HG01850 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,368 |
| essv24108069 | copy number gain | HG00171 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,139 |
| essv24108070 | copy number gain | HG01770 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,563 |
| essv24108071 | copy number gain | HG02716 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,025 |
| essv24108072 | copy number gain | HG02811 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,314 |
| essv24108073 | copy number gain | HG03069 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,750 |
| essv24108074 | copy number gain | HG03460 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,875 |
| essv24108075 | copy number gain | HG03756 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,417 |
| essv24108076 | copy number gain | HG03895 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,218 |
| essv24108077 | copy number gain | HG03900 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,602 |
| essv24108078 | copy number gain | HG03949 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,161 |
| essv24108079 | copy number gain | NA18499 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,783 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24108068 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108069 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108070 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108071 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108072 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108073 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108074 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108075 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108076 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108077 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108078 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108079 | Remapped | Perfect | NC_000016.10:g.898 13127_89823660dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,813,127 | 89,823,660 |
| essv24108068 | Submitted genomic | NC_000016.9:g.8987 9535_89890068del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108069 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108070 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108071 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108072 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108073 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108074 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108075 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108076 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108077 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108078 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 | ||
| essv24108079 | Submitted genomic | NC_000016.9:g.8987 9535_89890068dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,879,535 | 89,890,068 |