esv3634392
- 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:23,404
- 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: 128 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3634392 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 46,561,510 (-500, +0) | 46,584,913 (-0, +500) |
| esv3634392 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 47,030,713 (-500, +0) | 47,054,116 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15003112 | deletion | SAMN01091140 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,566 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15003112 | Remapped | Perfect | NC_000014.9:g.(465 61010_46561510)_(4 6584913_46585413)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 46,561,510 (-500, +0) | 46,584,913 (-0, +500) |
| essv15003112 | Submitted genomic | NC_000014.8:g.(470 30213_47030713)_(4 7054116_47054616)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 47,030,713 (-500, +0) | 47,054,116 (-0, +500) |