esv3876355
- 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:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,191
- 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: 632 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 632 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3876355 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| esv3876355 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 624,322 | 635,512 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23881105 | copy number loss | NA18747 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,391 |
| essv23881106 | copy number gain | HG00335 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,641 |
| essv23881107 | copy number gain | HG00383 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,261 |
| essv23881108 | copy number gain | HG00421 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,639 |
| essv23881109 | copy number gain | HG00428 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,476 |
| essv23881110 | copy number gain | HG00445 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,609 |
| essv23881111 | copy number gain | HG00446 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,436 |
| essv23881112 | copy number gain | HG00451 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,603 |
| essv23881113 | copy number gain | HG00452 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,334 |
| essv23881114 | copy number gain | HG00851 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,440 |
| essv23881115 | copy number gain | HG00956 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,379 |
| essv23881116 | copy number gain | HG00982 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,638 |
| essv23881117 | copy number gain | HG01085 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,714 |
| essv23881118 | copy number gain | HG01104 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,773 |
| essv23881119 | copy number gain | HG01105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,382 |
| essv23881120 | copy number gain | HG01702 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,332 |
| essv23881121 | copy number gain | HG01915 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,764 |
| essv23881122 | copy number gain | HG01923 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,463 |
| essv23881123 | copy number gain | HG02285 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,401 |
| essv23881124 | copy number gain | HG02286 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,228 |
| essv23881125 | copy number gain | NA18538 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,381 |
| essv23881126 | copy number gain | NA18639 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,409 |
| essv23881127 | copy number gain | NA19735 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,424 |
| essv23881128 | copy number gain | NA19794 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,225 |
| essv23881129 | copy number gain | NA19923 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,652 |
| essv23881130 | copy number gain | NA20339 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,646 |
| essv23881131 | copy number gain | NA21107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,587 |
| essv23881132 | copy number gain | NA21108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,252 |
| essv23881133 | copy number gain | NA21117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,460 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23881105 | Remapped | Perfect | NC_000016.10:g.574 322_585512del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881106 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881107 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881108 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881109 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881110 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881111 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881112 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881113 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881114 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881115 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881116 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881117 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881118 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881119 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881120 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881121 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881122 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881123 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881124 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881125 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881126 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881127 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881128 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881129 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881130 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881131 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881132 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881133 | Remapped | Perfect | NC_000016.10:g.574 322_585512dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 574,322 | 585,512 |
| essv23881105 | Submitted genomic | NC_000016.9:g.6243 22_635512del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881106 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881107 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881108 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881109 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881110 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881111 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881112 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881113 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881114 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881115 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881116 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881117 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881118 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881119 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881120 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881121 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881122 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881123 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881124 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881125 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881126 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881127 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881128 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881129 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881130 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881131 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881132 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 | ||
| essv23881133 | Submitted genomic | NC_000016.9:g.6243 22_635512dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 624,322 | 635,512 |