esv3841825
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,583
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 195 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3841825 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| esv3841825 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv19713637 | deletion | HG00476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,423 |
| essv19713638 | deletion | HG00653 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
| essv19713639 | deletion | HG00698 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,549 |
| essv19713640 | deletion | HG00844 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
| essv19713641 | deletion | HG00982 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,638 |
| essv19713642 | deletion | HG01795 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,412 |
| essv19713643 | deletion | HG01799 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,350 |
| essv19713644 | deletion | HG01804 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,402 |
| essv19713645 | deletion | HG01809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,314 |
| essv19713646 | deletion | HG01858 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,322 |
| essv19713647 | deletion | HG02029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,514 |
| essv19713648 | deletion | HG02131 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,490 |
| essv19713649 | deletion | HG02179 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,264 |
| essv19713650 | deletion | HG02250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,687 |
| essv19713651 | deletion | HG02356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,675 |
| essv19713652 | deletion | HG02396 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,614 |
| essv19713653 | deletion | HG02399 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,692 |
| essv19713654 | deletion | NA18555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,235 |
| essv19713655 | deletion | NA18610 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,407 |
| essv19713656 | deletion | NA18630 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,902 |
| essv19713657 | deletion | NA18941 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,436 |
| essv19713658 | deletion | NA18994 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,364 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19713637 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713638 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713639 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713640 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713641 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713642 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713643 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713644 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713645 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713646 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713647 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713648 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713649 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713650 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713651 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713652 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713653 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713654 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713655 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713656 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713657 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713658 | Remapped | Perfect | NC_000005.10:g.(11 7509658_117509958) _(117521240_117521 540)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 117,509,808 (-150, +150) | 117,521,390 (-150, +150) |
| essv19713637 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713638 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713639 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713640 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713641 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713642 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713643 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713644 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713645 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713646 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713647 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713648 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713649 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713650 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713651 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713652 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713653 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713654 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713655 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713656 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713657 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) | ||
| essv19713658 | Submitted genomic | NC_000005.9:g.(116 845353_116845653)_ (116856935_1168572 35)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 116,845,503 (-150, +150) | 116,857,085 (-150, +150) |