esv3816639
- 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:49,415
- 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: 687 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3816639 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| esv3816639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16748167 | deletion | SAMN00006408 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,406 |
| essv16748168 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
| essv16748169 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
| essv16748170 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16748171 | deletion | SAMN00001656 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,773 |
| essv16748172 | deletion | SAMN00001660 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,762 |
| essv16748173 | deletion | SAMN00001035 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,108 |
| essv16748174 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16748175 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16748176 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
| essv16748177 | deletion | SAMN00001252 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,317 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16748167 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748168 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748169 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748170 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748171 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748172 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748173 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748174 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748175 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748176 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748177 | Remapped | Perfect | NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,929,529 (-1000, +500) | 22,978,943 (-500, +1000) |
| essv16748167 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748168 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748169 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748170 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748171 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748172 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748173 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748174 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748175 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748176 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) | ||
| essv16748177 | Submitted genomic | NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,947,646 (-1000, +500) | 22,997,060 (-500, +1000) |