esv3837255
- 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:95,276
- 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: 432 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3837255 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 135,546,361 | 135,641,636 |
| esv3837255 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 136,467,516 | 136,562,791 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19140109 | copy number loss | NA20818 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,420 |
| essv19140110 | copy number gain | NA18648 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,086 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19140109 | Remapped | Perfect | NC_000004.12:g.135 546361_135641636de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 135,546,361 | 135,641,636 |
| essv19140110 | Remapped | Perfect | NC_000004.12:g.135 546361_135641636du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 135,546,361 | 135,641,636 |
| essv19140109 | Submitted genomic | NC_000004.11:g.136 467516_136562791de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 136,467,516 | 136,562,791 | ||
| essv19140110 | Submitted genomic | NC_000004.11:g.136 467516_136562791du p | GRCh37 (hg19) | NC_000004.11 | Chr4 | 136,467,516 | 136,562,791 |