esv2660065
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:70
- Validation:Yes
- Clinical Assertions: No
- Region Size:36,948
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 424 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 443 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2660065 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| esv2660065 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5398675 | deletion | SAMN00006367 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,120 |
| essv5398681 | deletion | SAMN00004632 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
| essv5404374 | deletion | SAMN00004674 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 674 |
| essv5412776 | deletion | SAMN00006343 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv5442156 | deletion | SAMN00004649 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,362 |
| essv5445283 | deletion | SAMN00006356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,568 |
| essv5452995 | deletion | SAMN00006355 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv5470891 | deletion | SAMN00004629 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 765 |
| essv5487040 | deletion | SAMN00006364 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,394 |
| essv5494905 | deletion | SAMN00009091 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,443 |
| essv5498408 | deletion | SAMN00004666 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
| essv5510863 | deletion | SAMN00004626 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 843 |
| essv5543361 | deletion | SAMN00004634 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv5567010 | deletion | SAMN00004672 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 913 |
| essv5573880 | deletion | SAMN00006338 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,005 |
| essv5668937 | deletion | SAMN00006365 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv5671758 | deletion | SAMN00006361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,388 |
| essv5687528 | deletion | SAMN00004673 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 856 |
| essv5700400 | deletion | SAMN00004622 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 762 |
| essv5710799 | deletion | SAMN00006368 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,057 |
| essv5717461 | deletion | SAMN00006352 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
| essv5766797 | deletion | SAMN00009088 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
| essv5772146 | deletion | SAMN00006359 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
| essv5808734 | deletion | SAMN00006357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,585 |
| essv5844574 | deletion | SAMN00004667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 867 |
| essv5852647 | deletion | SAMN00004659 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 896 |
| essv5883621 | deletion | SAMN00004675 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,496 |
| essv5888165 | deletion | SAMN00006340 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
| essv5892174 | deletion | SAMN00009240 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv5897488 | deletion | SAMN00004669 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,071 |
| essv5905533 | deletion | SAMN00004651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv5973211 | deletion | SAMN00006341 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,375 |
| essv5974373 | deletion | SAMN00004668 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,117 |
| essv6003478 | deletion | SAMN00006350 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,009 |
| essv6023260 | deletion | SAMN00004642 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
| essv6026826 | deletion | SAMN00004664 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,019 |
| essv6032131 | deletion | SAMN00009089 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,584 |
| essv6057103 | deletion | SAMN00004637 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,578 |
| essv6057879 | deletion | SAMN00004643 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,095 |
| essv6062724 | deletion | SAMN00004656 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
| essv6074122 | deletion | SAMN00006349 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,732 |
| essv6081608 | deletion | SAMN00006345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,340 |
| essv6111993 | deletion | SAMN00006348 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,474 |
| essv6145881 | deletion | SAMN00004670 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,005 |
| essv6158572 | deletion | SAMN00006354 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,150 |
| essv6177483 | deletion | SAMN00004657 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,536 |
| essv6178330 | deletion | SAMN00006363 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,294 |
| essv6187331 | deletion | SAMN00006366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
| essv6190559 | deletion | SAMN00004660 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,080 |
| essv6196512 | deletion | SAMN00006358 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,609 |
| essv6216332 | deletion | SAMN00004645 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 771 |
| essv6243770 | deletion | SAMN00006369 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 961 |
| essv6260216 | deletion | SAMN00009092 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv6266526 | deletion | SAMN00006342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,300 |
| essv6291909 | deletion | SAMN00006346 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
| essv6294293 | deletion | SAMN00006347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,474 |
| essv6342443 | deletion | SAMN00004641 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 631 |
| essv6357608 | deletion | SAMN00004658 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,548 |
| essv6378186 | deletion | SAMN00004644 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 930 |
| essv6381726 | deletion | SAMN00004655 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv6387335 | deletion | SAMN00004661 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,025 |
| essv6416947 | deletion | SAMN00004676 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,157 |
| essv6432336 | deletion | SAMN00004638 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
| essv6448218 | deletion | SAMN00004654 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,595 |
| essv6456091 | deletion | SAMN00006351 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,048 |
| essv6497484 | deletion | SAMN00006353 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,078 |
| essv6526111 | deletion | SAMN00004677 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 693 |
| essv6531510 | deletion | SAMN00006362 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv6586124 | deletion | SAMN00004640 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,063 |
| essv6595041 | deletion | SAMN00006360 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5398675 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5398681 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5404374 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5412776 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5442156 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5445283 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5452995 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5470891 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5487040 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5494905 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5498408 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5510863 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5543361 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5567010 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5573880 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5668937 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5671758 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5687528 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5700400 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5710799 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5717461 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5766797 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5772146 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5808734 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5844574 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5852647 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5883621 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5888165 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5892174 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5897488 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5905533 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5973211 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5974373 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6003478 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6023260 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6026826 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6032131 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6057103 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6057879 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6062724 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6074122 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6081608 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6111993 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6145881 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6158572 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6177483 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6178330 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6187331 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6190559 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6196512 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6216332 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6243770 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6260216 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6266526 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6291909 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6294293 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6342443 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6357608 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6378186 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6381726 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6387335 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6416947 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6432336 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6448218 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6456091 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6497484 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6526111 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6531510 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6586124 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv6595041 | Remapped | Perfect | NC_000022.11:g.(16 760655_16761026)_( 16797232_16797602) del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,760,655 | 16,761,026 | 16,797,232 | 16,797,602 |
| essv5398675 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5398681 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5404374 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5412776 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5442156 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5445283 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5452995 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5470891 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5487040 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5494905 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5498408 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5510863 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5543361 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5567010 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5573880 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5668937 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5671758 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5687528 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5700400 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5710799 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5717461 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5766797 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5772146 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5808734 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5844574 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5852647 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5883621 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5888165 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5892174 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 | ||
| essv5897488 | Submitted genomic | NC_000022.10:g.(17 241545_17241916)_( 17278122_17278492) del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,241,545 | 17,241,916 | 17,278,122 | 17,278,492 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5700400 | 7 | SAMN00004622 | SNP array | Probe signal intensity | Pass |
| essv5510863 | 7 | SAMN00004626 | SNP array | Probe signal intensity | Pass |
| essv5470891 | 7 | SAMN00004629 | SNP array | Probe signal intensity | Pass |
| essv5398681 | 7 | SAMN00004632 | SNP array | Probe signal intensity | Pass |
| essv5543361 | 7 | SAMN00004634 | SNP array | Probe signal intensity | Pass |
| essv6057103 | 7 | SAMN00004637 | SNP array | Probe signal intensity | Pass |
| essv6432336 | 7 | SAMN00004638 | SNP array | Probe signal intensity | Pass |
| essv6586124 | 7 | SAMN00004640 | SNP array | Probe signal intensity | Pass |
| essv6342443 | 7 | SAMN00004641 | SNP array | Probe signal intensity | Pass |
| essv6023260 | 7 | SAMN00004642 | SNP array | Probe signal intensity | Pass |
| essv6057879 | 7 | SAMN00004643 | SNP array | Probe signal intensity | Pass |
| essv6378186 | 7 | SAMN00004644 | SNP array | Probe signal intensity | Pass |
| essv6216332 | 7 | SAMN00004645 | SNP array | Probe signal intensity | Pass |
| essv5442156 | 7 | SAMN00004649 | SNP array | Probe signal intensity | Pass |
| essv5905533 | 7 | SAMN00004651 | SNP array | Probe signal intensity | Pass |
| essv6448218 | 7 | SAMN00004654 | SNP array | Probe signal intensity | Pass |
| essv6381726 | 7 | SAMN00004655 | SNP array | Probe signal intensity | Pass |
| essv6062724 | 7 | SAMN00004656 | SNP array | Probe signal intensity | Pass |
| essv6177483 | 7 | SAMN00004657 | SNP array | Probe signal intensity | Pass |
| essv6357608 | 7 | SAMN00004658 | SNP array | Probe signal intensity | Pass |
| essv5852647 | 7 | SAMN00004659 | SNP array | Probe signal intensity | Pass |
| essv6190559 | 7 | SAMN00004660 | SNP array | Probe signal intensity | Pass |
| essv6387335 | 7 | SAMN00004661 | SNP array | Probe signal intensity | Pass |
| essv6026826 | 7 | SAMN00004664 | SNP array | Probe signal intensity | Pass |
| essv5498408 | 7 | SAMN00004666 | SNP array | Probe signal intensity | Pass |
| essv5844574 | 7 | SAMN00004667 | SNP array | Probe signal intensity | Pass |
| essv5974373 | 7 | SAMN00004668 | SNP array | Probe signal intensity | Pass |
| essv5897488 | 7 | SAMN00004669 | SNP array | Probe signal intensity | Pass |
| essv6145881 | 7 | SAMN00004670 | SNP array | Probe signal intensity | Pass |
| essv5567010 | 7 | SAMN00004672 | SNP array | Probe signal intensity | Pass |
| essv5687528 | 7 | SAMN00004673 | SNP array | Probe signal intensity | Pass |
| essv5404374 | 7 | SAMN00004674 | SNP array | Probe signal intensity | Pass |
| essv5883621 | 7 | SAMN00004675 | SNP array | Probe signal intensity | Pass |
| essv6416947 | 7 | SAMN00004676 | SNP array | Probe signal intensity | Pass |
| essv6526111 | 7 | SAMN00004677 | SNP array | Probe signal intensity | Pass |
| essv5573880 | 7 | SAMN00006338 | SNP array | Probe signal intensity | Pass |
| essv5888165 | 7 | SAMN00006340 | SNP array | Probe signal intensity | Pass |
| essv5973211 | 7 | SAMN00006341 | SNP array | Probe signal intensity | Pass |
| essv6266526 | 7 | SAMN00006342 | SNP array | Probe signal intensity | Pass |
| essv5412776 | 7 | SAMN00006343 | SNP array | Probe signal intensity | Pass |
| essv6081608 | 7 | SAMN00006345 | SNP array | Probe signal intensity | Pass |
| essv6291909 | 7 | SAMN00006346 | SNP array | Probe signal intensity | Pass |
| essv6294293 | 7 | SAMN00006347 | SNP array | Probe signal intensity | Pass |
| essv6111993 | 7 | SAMN00006348 | SNP array | Probe signal intensity | Pass |
| essv6074122 | 7 | SAMN00006349 | SNP array | Probe signal intensity | Pass |
| essv6003478 | 7 | SAMN00006350 | SNP array | Probe signal intensity | Pass |
| essv6456091 | 7 | SAMN00006351 | SNP array | Probe signal intensity | Pass |
| essv5717461 | 7 | SAMN00006352 | SNP array | Probe signal intensity | Pass |
| essv6497484 | 7 | SAMN00006353 | SNP array | Probe signal intensity | Pass |
| essv6158572 | 7 | SAMN00006354 | SNP array | Probe signal intensity | Pass |
| essv5452995 | 7 | SAMN00006355 | SNP array | Probe signal intensity | Pass |
| essv5445283 | 7 | SAMN00006356 | SNP array | Probe signal intensity | Pass |
| essv5808734 | 7 | SAMN00006357 | SNP array | Probe signal intensity | Pass |
| essv6196512 | 7 | SAMN00006358 | SNP array | Probe signal intensity | Pass |
| essv5772146 | 7 | SAMN00006359 | SNP array | Probe signal intensity | Pass |
| essv6595041 | 7 | SAMN00006360 | SNP array | Probe signal intensity | Pass |
| essv5671758 | 7 | SAMN00006361 | SNP array | Probe signal intensity | Pass |
| essv6531510 | 7 | SAMN00006362 | SNP array | Probe signal intensity | Pass |
| essv6178330 | 7 | SAMN00006363 | SNP array | Probe signal intensity | Pass |
| essv5487040 | 7 | SAMN00006364 | SNP array | Probe signal intensity | Pass |
| essv5668937 | 7 | SAMN00006365 | SNP array | Probe signal intensity | Pass |
| essv6187331 | 7 | SAMN00006366 | SNP array | Probe signal intensity | Pass |
| essv5398675 | 7 | SAMN00006367 | SNP array | Probe signal intensity | Pass |
| essv5710799 | 7 | SAMN00006368 | SNP array | Probe signal intensity | Pass |
| essv6243770 | 7 | SAMN00006369 | SNP array | Probe signal intensity | Pass |
| essv5766797 | 7 | SAMN00009088 | SNP array | Probe signal intensity | Pass |
| essv6032131 | 7 | SAMN00009089 | SNP array | Probe signal intensity | Pass |
| essv5494905 | 7 | SAMN00009091 | SNP array | Probe signal intensity | Pass |
| essv6260216 | 7 | SAMN00009092 | SNP array | Probe signal intensity | Pass |
| essv5892174 | 7 | SAMN00009240 | SNP array | Probe signal intensity | Pass |