esv3816074
- 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:256,713
- 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: 1505 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1506 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3816074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| esv3816074 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16668500 | deletion | SAMN00009088 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,888 |
| essv16668501 | deletion | SAMN00016972 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,408 |
| essv16668502 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
| essv16668503 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
| essv16668504 | deletion | SAMN00249837 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,698 |
| essv16668505 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16668506 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16668507 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16668508 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16668509 | deletion | SAMN00001252 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,317 |
| essv16668510 | deletion | SAMN00007886 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,852 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16668500 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668501 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668502 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668503 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668504 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668505 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668506 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668507 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668508 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668509 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668510 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv16668500 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668501 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668502 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668503 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668504 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668505 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668506 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668507 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668508 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668509 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv16668510 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) |