esv3869445
- 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:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,541
- 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: 757 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 757 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3869445 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,575,333 | 131,604,873 |
| esv3869445 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187591.1 | Chr12|NT_1 87591.1 | 32,271 | 56,134 |
| esv3869445 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 132,059,878 | 132,089,418 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23024325 | copy number loss | NA19777 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,562 |
| essv23024326 | copy number gain | HG01851 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,378 |
| essv23024327 | copy number variation | HG02048 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 3,151 |
| essv23024328 | copy number gain | HG03745 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,449 |
| essv23024329 | copy number gain | HG03815 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,575 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23024325 | Remapped | Pass | NT_187591.1:g.3227 1_56134del | GRCh38.p12 | Second Pass | NT_187591.1 | Chr12|NT_1 87591.1 | 32,271 | 56,134 |
| essv23024326 | Remapped | Pass | NT_187591.1:g.3227 1_56134dup | GRCh38.p12 | Second Pass | NT_187591.1 | Chr12|NT_1 87591.1 | 32,271 | 56,134 |
| essv23024327 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187591.1 | Chr12|NT_1 87591.1 | 32,271 | 56,134 | |
| essv23024328 | Remapped | Pass | NT_187591.1:g.3227 1_56134dup | GRCh38.p12 | Second Pass | NT_187591.1 | Chr12|NT_1 87591.1 | 32,271 | 56,134 |
| essv23024329 | Remapped | Pass | NT_187591.1:g.3227 1_56134dup | GRCh38.p12 | Second Pass | NT_187591.1 | Chr12|NT_1 87591.1 | 32,271 | 56,134 |
| essv23024325 | Remapped | Perfect | NC_000012.12:g.131 575333_131604873de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,575,333 | 131,604,873 |
| essv23024326 | Remapped | Perfect | NC_000012.12:g.131 575333_131604873du p | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,575,333 | 131,604,873 |
| essv23024327 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,575,333 | 131,604,873 | |
| essv23024328 | Remapped | Perfect | NC_000012.12:g.131 575333_131604873du p | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,575,333 | 131,604,873 |
| essv23024329 | Remapped | Perfect | NC_000012.12:g.131 575333_131604873du p | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,575,333 | 131,604,873 |
| essv23024325 | Submitted genomic | NC_000012.11:g.132 059878_132089418de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,059,878 | 132,089,418 | ||
| essv23024326 | Submitted genomic | NC_000012.11:g.132 059878_132089418du p | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,059,878 | 132,089,418 | ||
| essv23024327 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,059,878 | 132,089,418 | |||
| essv23024328 | Submitted genomic | NC_000012.11:g.132 059878_132089418du p | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,059,878 | 132,089,418 | ||
| essv23024329 | Submitted genomic | NC_000012.11:g.132 059878_132089418du p | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,059,878 | 132,089,418 |