esv3627064
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,318
- 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: 171 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3627064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 85,412,164 (-500, +0) | 85,435,481 (-0, +500) |
| esv3627064 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 85,123,208 (-500, +0) | 85,146,525 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14221299 | deletion | SAMN00001123 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,160 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14221299 | Remapped | Perfect | NC_000011.10:g.(85 411664_85412164)_( 85435481_85435981) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 85,412,164 (-500, +0) | 85,435,481 (-0, +500) |
| essv14221299 | Submitted genomic | NC_000011.9:g.(851 22708_85123208)_(8 5146525_85147025)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 85,123,208 (-500, +0) | 85,146,525 (-0, +500) |