esv3859266
- 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:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,711
- 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: 312 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 233 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3859266 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| esv3859266 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21809941 | deletion | HG00337 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,441 |
| essv21809942 | deletion | HG00345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,631 |
| essv21809943 | deletion | HG00638 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,281 |
| essv21809944 | deletion | HG01075 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,747 |
| essv21809945 | deletion | HG01519 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,741 |
| essv21809946 | deletion | HG01619 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,482 |
| essv21809947 | deletion | HG03709 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,509 |
| essv21809948 | deletion | HG03833 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,433 |
| essv21809949 | deletion | HG03914 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,435 |
| essv21809950 | deletion | HG03928 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,278 |
| essv21809951 | deletion | NA11831 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,344 |
| essv21809952 | deletion | NA12286 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,691 |
| essv21809953 | deletion | NA20771 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,384 |
| essv21809954 | deletion | NA20805 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,668 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21809941 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809942 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809943 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809944 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809945 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809946 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809947 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809948 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809949 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809950 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809951 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809952 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809953 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809954 | Remapped | Perfect | NC_000010.11:g.(84 865_86365)_(97075_ 98575)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 85,865 (-1000, +500) | 97,575 (-500, +1000) |
| essv21809941 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809942 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809943 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809944 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809945 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809946 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809947 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809948 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809949 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809950 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809951 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809952 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809953 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) | ||
| essv21809954 | Submitted genomic | NC_000010.10:g.(13 0805_132305)_(1430 15_144515)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 131,805 (-1000, +500) | 143,515 (-500, +1000) |