esv3886838
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 269 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3886838 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| esv3886838 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24999297 | insertion | HG00311 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,551 |
| essv24999298 | insertion | HG01124 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,869 |
| essv24999299 | insertion | NA18550 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,343 |
| essv24999300 | insertion | NA18853 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,000 |
| essv24999301 | insertion | NA19056 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,600 |
| essv24999302 | insertion | NA19436 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,120 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24999297 | Remapped | Perfect | NC_000021.9:g.(411 50498_41150501)_(4 1150495_41150498)i ns102 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| essv24999298 | Remapped | Perfect | NC_000021.9:g.(411 50498_41150501)_(4 1150495_41150498)i ns102 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| essv24999299 | Remapped | Perfect | NC_000021.9:g.(411 50498_41150501)_(4 1150495_41150498)i ns102 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| essv24999300 | Remapped | Perfect | NC_000021.9:g.(411 50498_41150501)_(4 1150495_41150498)i ns102 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| essv24999301 | Remapped | Perfect | NC_000021.9:g.(411 50498_41150501)_(4 1150495_41150498)i ns102 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| essv24999302 | Remapped | Perfect | NC_000021.9:g.(411 50498_41150501)_(4 1150495_41150498)i ns102 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 41,150,498 (-0, +3) | 41,150,498 (-3, +0) |
| essv24999297 | Submitted genomic | NC_000021.8:g.(425 22425_42522428)_(4 2522422_42522425)i ns102 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) | ||
| essv24999298 | Submitted genomic | NC_000021.8:g.(425 22425_42522428)_(4 2522422_42522425)i ns102 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) | ||
| essv24999299 | Submitted genomic | NC_000021.8:g.(425 22425_42522428)_(4 2522422_42522425)i ns102 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) | ||
| essv24999300 | Submitted genomic | NC_000021.8:g.(425 22425_42522428)_(4 2522422_42522425)i ns102 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) | ||
| essv24999301 | Submitted genomic | NC_000021.8:g.(425 22425_42522428)_(4 2522422_42522425)i ns102 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) | ||
| essv24999302 | Submitted genomic | NC_000021.8:g.(425 22425_42522428)_(4 2522422_42522425)i ns102 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 42,522,425 (-0, +3) | 42,522,425 (-3, +0) |