esv3606099
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,732
- 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: 206 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3606099 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| esv3606099 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12005291 | deletion | SAMN00009154 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,953 |
| essv12005292 | deletion | SAMN00009186 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,841 |
| essv12005293 | deletion | SAMN00009193 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,592 |
| essv12005294 | deletion | SAMN01091068 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,646 |
| essv12005295 | deletion | SAMN00014326 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,747 |
| essv12005296 | deletion | SAMN00014351 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,627 |
| essv12005297 | deletion | SAMN00249681 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,621 |
| essv12005298 | deletion | SAMN00249693 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,591 |
| essv12005299 | deletion | SAMN00249694 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,610 |
| essv12005300 | deletion | SAMN00249703 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,640 |
| essv12005301 | deletion | SAMN00249706 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,502 |
| essv12005302 | deletion | SAMN00249720 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,466 |
| essv12005303 | deletion | SAMN00249721 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,381 |
| essv12005304 | deletion | SAMN00249742 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,454 |
| essv12005305 | deletion | SAMN00263011 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,282 |
| essv12005306 | deletion | SAMN00007716 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,449 |
| essv12005307 | deletion | SAMN00007750 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,826 |
| essv12005308 | deletion | SAMN00007774 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12005291 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005292 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005293 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005294 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005295 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005296 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005297 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005298 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005299 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005300 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005301 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005302 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005303 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005304 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005305 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005306 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005307 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005308 | Remapped | Perfect | NC_000005.10:g.(10 4104366_104105866) _(104117597_104119 097)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,105,366 (-1000, +500) | 104,118,097 (-500, +1000) |
| essv12005291 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005292 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005293 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005294 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005295 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005296 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005297 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005298 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005299 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005300 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005301 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005302 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005303 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005304 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005305 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005306 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005307 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) | ||
| essv12005308 | Submitted genomic | NC_000005.9:g.(103 440067_103441567)_ (103453298_1034547 98)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 103,441,067 (-1000, +500) | 103,453,798 (-500, +1000) |