esv3621328
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,563
- 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: 265 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3621328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
esv3621328 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv13591661 | deletion | SAMN00630198 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,096 |
essv13591662 | deletion | SAMN00779931 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,117 |
essv13591663 | deletion | SAMN00779933 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,201 |
essv13591664 | deletion | SAMN01090749 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,026 |
essv13591665 | deletion | SAMN01090798 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,064 |
essv13591666 | deletion | SAMN01761320 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,295 |
essv13591667 | deletion | SAMN01090809 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,083 |
essv13591668 | deletion | SAMN00001052 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,055 |
essv13591669 | deletion | SAMN00001683 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,908 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv13591661 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591662 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591663 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591664 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591665 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591666 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591667 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591668 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591669 | Remapped | Perfect | NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,050,448 (-4, +5) | 104,090,010 (-4, +5) |
essv13591661 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591662 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591663 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591664 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591665 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591666 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591667 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591668 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) | ||
essv13591669 | Submitted genomic | NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 106,812,729 (-4, +5) | 106,852,291 (-4, +5) |