esv3595097
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,815
- 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: 876 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3595097 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| esv3595097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10905319 | deletion | SAMN00255139 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,794 |
| essv10905320 | deletion | SAMN01761310 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,227 |
| essv10905321 | deletion | SAMN01761329 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,537 |
| essv10905322 | deletion | SAMN00800909 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,850 |
| essv10905323 | deletion | SAMN00000920 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,621 |
| essv10905324 | deletion | SAMN00000425 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,630 |
| essv10905325 | deletion | SAMN00000427 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,673 |
| essv10905326 | deletion | SAMN00000458 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,797 |
| essv10905327 | deletion | SAMN00000469 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,597 |
| essv10905328 | deletion | SAMN00001035 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,108 |
| essv10905329 | deletion | SAMN00007788 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,554 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10905319 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905320 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905321 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905322 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905323 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905324 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905325 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905326 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905327 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905328 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905329 | Remapped | Perfect | NC_000003.12:g.(41 95236_4195322)_(42 46050_4246136)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,195,279 (-43, +43) | 4,246,093 (-43, +43) |
| essv10905319 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905320 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905321 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905322 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905323 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905324 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905325 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905326 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905327 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905328 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) | ||
| essv10905329 | Submitted genomic | NC_000003.11:g.(42 36920_4237006)_(42 87734_4287820)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 4,236,963 (-43, +43) | 4,287,777 (-43, +43) |