esv3817388
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,346
- 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: 426 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 426 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817388 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| esv3817388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16860324 | deletion | SAMN00004636 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,698 |
| essv16860325 | deletion | SAMN00004638 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,504 |
| essv16860326 | deletion | SAMN00006388 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,552 |
| essv16860327 | deletion | SAMN00006516 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,414 |
| essv16860328 | deletion | SAMN00006531 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,378 |
| essv16860329 | deletion | SAMN00006555 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,699 |
| essv16860330 | deletion | SAMN00009145 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,935 |
| essv16860331 | deletion | SAMN00009174 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,758 |
| essv16860332 | deletion | SAMN00014326 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,747 |
| essv16860333 | deletion | SAMN00014380 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,356 |
| essv16860334 | deletion | SAMN00014418 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,699 |
| essv16860335 | deletion | SAMN00630255 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,870 |
| essv16860336 | deletion | SAMN01761379 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,859 |
| essv16860337 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
| essv16860338 | deletion | SAMN01761437 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,971 |
| essv16860339 | deletion | SAMN01761446 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,494 |
| essv16860340 | deletion | SAMN00001633 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,899 |
| essv16860341 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
| essv16860342 | deletion | SAMN00001159 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,209 |
| essv16860343 | deletion | SAMN00007762 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,222 |
| essv16860344 | deletion | SAMN00007868 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,466 |
| essv16860345 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
| essv16860346 | deletion | SAMN00007902 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,878 |
| essv16860347 | deletion | SAMN00007946 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,305 |
| essv16860348 | deletion | SAMN00007949 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,258 |
| essv16860349 | deletion | SAMN00007956 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,498 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16860324 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860325 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860326 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860327 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860328 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860329 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860330 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860331 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860332 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860333 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860334 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860335 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860336 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860337 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860338 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860339 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860340 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860341 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860342 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860343 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860344 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860345 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860346 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860347 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860348 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860349 | Remapped | Perfect | NC_000023.11:g.(11 9774725_119774825) _(119777070_119777 170)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,774,775 (-50, +50) | 119,777,120 (-50, +50) |
| essv16860324 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860325 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860326 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860327 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860328 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860329 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860330 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860331 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860332 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860333 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860334 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860335 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860336 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860337 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860338 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860339 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860340 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860341 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860342 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860343 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860344 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860345 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860346 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860347 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860348 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) | ||
| essv16860349 | Submitted genomic | NC_000023.10:g.(11 8908688_118908788) _(118911033_118911 133)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,908,738 (-50, +50) | 118,911,083 (-50, +50) |