esv3594557
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,285
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 148 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3594557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 228,519,537 | 228,544,821 |
| esv3594557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 229,384,253 | 229,409,537 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10872253 | deletion | SAMN00006370 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,238 |
| essv10872254 | deletion | SAMN01761624 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,255 |
| essv10872255 | deletion | SAMN01090879 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,917 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10872253 | Remapped | Perfect | NC_000002.12:g.228 519537_228544821de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 228,519,537 | 228,544,821 |
| essv10872254 | Remapped | Perfect | NC_000002.12:g.228 519537_228544821de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 228,519,537 | 228,544,821 |
| essv10872255 | Remapped | Perfect | NC_000002.12:g.228 519537_228544821de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 228,519,537 | 228,544,821 |
| essv10872253 | Submitted genomic | NC_000002.11:g.229 384253_229409537de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 229,384,253 | 229,409,537 | ||
| essv10872254 | Submitted genomic | NC_000002.11:g.229 384253_229409537de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 229,384,253 | 229,409,537 | ||
| essv10872255 | Submitted genomic | NC_000002.11:g.229 384253_229409537de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 229,384,253 | 229,409,537 |