esv3868278
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:106,521
- 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: 376 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3868278 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 83,956,494 | 84,063,014 |
| esv3868278 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 84,350,273 | 84,456,793 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22913211 | copy number loss | NA19475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,150 |
| essv22913212 | copy number gain | NA12058 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,433 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22913211 | Remapped | Perfect | NC_000012.12:g.839 56494_84063014del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 83,956,494 | 84,063,014 |
| essv22913212 | Remapped | Perfect | NC_000012.12:g.839 56494_84063014dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 83,956,494 | 84,063,014 |
| essv22913211 | Submitted genomic | NC_000012.11:g.843 50273_84456793del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 84,350,273 | 84,456,793 | ||
| essv22913212 | Submitted genomic | NC_000012.11:g.843 50273_84456793dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 84,350,273 | 84,456,793 |