esv3641529
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121,308
- 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: 1005 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1005 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3641529 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 1,721,520 | 1,842,827 |
| esv3641529 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805503.1 | Chr18|NW_0 19805503.1 | 1 | 121,176 |
| esv3641529 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 1,721,521 | 1,842,828 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15775833 | deletion | SAMN00249866 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,724 |
| essv15775834 | deletion | SAMN00004484 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,926 |
| essv15775835 | deletion | SAMN00001323 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,907 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15775833 | Remapped | Good | NW_019805503.1:g.1 _121176del | GRCh38.p12 | Second Pass | NW_019805503.1 | Chr18|NW_0 19805503.1 | 1 | 121,176 |
| essv15775834 | Remapped | Good | NW_019805503.1:g.1 _121176del | GRCh38.p12 | Second Pass | NW_019805503.1 | Chr18|NW_0 19805503.1 | 1 | 121,176 |
| essv15775835 | Remapped | Good | NW_019805503.1:g.1 _121176del | GRCh38.p12 | Second Pass | NW_019805503.1 | Chr18|NW_0 19805503.1 | 1 | 121,176 |
| essv15775833 | Remapped | Perfect | NC_000018.10:g.172 1520_1842827del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 1,721,520 | 1,842,827 |
| essv15775834 | Remapped | Perfect | NC_000018.10:g.172 1520_1842827del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 1,721,520 | 1,842,827 |
| essv15775835 | Remapped | Perfect | NC_000018.10:g.172 1520_1842827del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 1,721,520 | 1,842,827 |
| essv15775833 | Submitted genomic | NC_000018.9:g.1721 521_1842828del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 1,721,521 | 1,842,828 | ||
| essv15775834 | Submitted genomic | NC_000018.9:g.1721 521_1842828del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 1,721,521 | 1,842,828 | ||
| essv15775835 | Submitted genomic | NC_000018.9:g.1721 521_1842828del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 1,721,521 | 1,842,828 |