esv3633630
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,369
- 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: 576 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3633630 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| esv3633630 | Remapped | Good | GRCh38.p12 | PATCHES | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| esv3633630 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14909851 | copy number loss | SAMN00006433 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,389 |
| essv14909852 | copy number loss | SAMN00006511 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,127 |
| essv14909853 | copy number loss | SAMN00006525 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,393 |
| essv14909854 | copy number loss | SAMN00006529 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,283 |
| essv14909855 | copy number loss | SAMN00006531 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,378 |
| essv14909856 | copy number loss | SAMN00000386 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,456 |
| essv14909857 | copy number gain | SAMN00006585 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,864 |
| essv14909858 | copy number gain | SAMN00249853 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,582 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14909851 | Remapped | Good | NW_011332698.1:g.9 3762_117130del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909852 | Remapped | Good | NW_011332698.1:g.9 3762_117130del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909853 | Remapped | Good | NW_011332698.1:g.9 3762_117130del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909854 | Remapped | Good | NW_011332698.1:g.9 3762_117130del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909855 | Remapped | Good | NW_011332698.1:g.9 3762_117130del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909856 | Remapped | Good | NW_011332698.1:g.9 3762_117130del | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909857 | Remapped | Good | NW_011332698.1:g.9 3762_117130dup | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909858 | Remapped | Good | NW_011332698.1:g.9 3762_117130dup | GRCh38.p12 | First Pass | NW_011332698.1 | Chr13|NW_0 11332698.1 | 93,762 | 117,130 |
| essv14909851 | Remapped | Good | NC_000013.11:g.114 034671_114058039de l | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909852 | Remapped | Good | NC_000013.11:g.114 034671_114058039de l | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909853 | Remapped | Good | NC_000013.11:g.114 034671_114058039de l | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909854 | Remapped | Good | NC_000013.11:g.114 034671_114058039de l | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909855 | Remapped | Good | NC_000013.11:g.114 034671_114058039de l | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909856 | Remapped | Good | NC_000013.11:g.114 034671_114058039de l | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909857 | Remapped | Good | NC_000013.11:g.114 034671_114058039du p | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909858 | Remapped | Good | NC_000013.11:g.114 034671_114058039du p | GRCh38.p12 | Second Pass | NC_000013.11 | Chr13 | 114,034,671 | 114,058,039 |
| essv14909851 | Submitted genomic | NC_000013.10:g.114 800147_114823514de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909852 | Submitted genomic | NC_000013.10:g.114 800147_114823514de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909853 | Submitted genomic | NC_000013.10:g.114 800147_114823514de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909854 | Submitted genomic | NC_000013.10:g.114 800147_114823514de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909855 | Submitted genomic | NC_000013.10:g.114 800147_114823514de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909856 | Submitted genomic | NC_000013.10:g.114 800147_114823514de l | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909857 | Submitted genomic | NC_000013.10:g.114 800147_114823514du p | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 | ||
| essv14909858 | Submitted genomic | NC_000013.10:g.114 800147_114823514du p | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,800,147 | 114,823,514 |