esv3618466
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,722
- 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: 269 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3618466 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 113,298,622 (-39, +39) | 113,312,343 (-39, +39) |
| esv3618466 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 114,310,851 (-39, +39) | 114,324,572 (-39, +39) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13288862 | deletion | SAMN00006499 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,590 |
| essv13288863 | deletion | SAMN00006513 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,688 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13288862 | Remapped | Perfect | NC_000008.11:g.(11 3298583_113298661) _(113312304_113312 382)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 113,298,622 (-39, +39) | 113,312,343 (-39, +39) |
| essv13288863 | Remapped | Perfect | NC_000008.11:g.(11 3298583_113298661) _(113312304_113312 382)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 113,298,622 (-39, +39) | 113,312,343 (-39, +39) |
| essv13288862 | Submitted genomic | NC_000008.10:g.(11 4310812_114310890) _(114324533_114324 611)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 114,310,851 (-39, +39) | 114,324,572 (-39, +39) | ||
| essv13288863 | Submitted genomic | NC_000008.10:g.(11 4310812_114310890) _(114324533_114324 611)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 114,310,851 (-39, +39) | 114,324,572 (-39, +39) |