esv3870820
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,736
- 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: 489 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 489 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3870820 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 66,668,408 | 66,753,143 |
| esv3870820 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 67,242,540 | 67,327,275 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23190074 | copy number variation | NA18592 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 3,389 |
| essv23190075 | copy number loss | NA20849 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,504 |
| essv23190076 | copy number gain | HG02554 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,307 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23190074 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 66,668,408 | 66,753,143 | |
| essv23190075 | Remapped | Perfect | NC_000013.11:g.666 68408_66753143del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 66,668,408 | 66,753,143 |
| essv23190076 | Remapped | Perfect | NC_000013.11:g.666 68408_66753143dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 66,668,408 | 66,753,143 |
| essv23190074 | Submitted genomic | GRCh37 (hg19) | NC_000013.10 | Chr13 | 67,242,540 | 67,327,275 | |||
| essv23190075 | Submitted genomic | NC_000013.10:g.672 42540_67327275del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 67,242,540 | 67,327,275 | ||
| essv23190076 | Submitted genomic | NC_000013.10:g.672 42540_67327275dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 67,242,540 | 67,327,275 |