esv3621338
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,124
- 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: 315 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3621338 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| esv3621338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13591870 | deletion | SAMN00255127 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,380 |
| essv13591871 | deletion | SAMN00779985 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,290 |
| essv13591872 | deletion | SAMN01036769 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,858 |
| essv13591873 | deletion | SAMN01090790 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,116 |
| essv13591874 | deletion | SAMN00001040 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,220 |
| essv13591875 | deletion | SAMN00001041 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,175 |
| essv13591876 | deletion | SAMN00001055 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,911 |
| essv13591877 | deletion | SAMN00001059 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,175 |
| essv13591878 | deletion | SAMN00001676 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,811 |
| essv13591879 | deletion | SAMN00001098 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,867 |
| essv13591880 | deletion | SAMN00001110 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,124 |
| essv13591881 | deletion | SAMN00001113 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,558 |
| essv13591882 | deletion | SAMN00001127 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,174 |
| essv13591883 | deletion | SAMN00001135 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,038 |
| essv13591884 | deletion | SAMN00001137 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,195 |
| essv13591885 | deletion | SAMN00001140 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,101 |
| essv13591886 | deletion | SAMN00001147 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,043 |
| essv13591887 | deletion | SAMN00001162 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,775 |
| essv13591888 | deletion | SAMN00001175 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,829 |
| essv13591889 | deletion | SAMN00001184 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,973 |
| essv13591890 | deletion | SAMN00001193 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,046 |
| essv13591891 | deletion | SAMN00007810 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,058 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13591870 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591871 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591872 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591873 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591874 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591875 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591876 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591877 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591878 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591879 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591880 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591881 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591882 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591883 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591884 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591885 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591886 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591887 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591888 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591889 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591890 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591891 | Remapped | Perfect | NC_000009.12:g.(10 4604107_104605607) _(104617730_104619 230)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,605,107 (-1000, +500) | 104,618,230 (-500, +1000) |
| essv13591870 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591871 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591872 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591873 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591874 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591875 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591876 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591877 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591878 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591879 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591880 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591881 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591882 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591883 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591884 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591885 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591886 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591887 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591888 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591889 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591890 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) | ||
| essv13591891 | Submitted genomic | NC_000009.11:g.(10 7366388_107367888) _(107380011_107381 511)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,367,388 (-1000, +500) | 107,380,511 (-500, +1000) |