esv3404240
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:42
- Validation:Fail
- Clinical Assertions: No
- Region Size:16,618
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 140 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3404240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| esv3404240 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| esv3404240 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8241712 | deletion | SAMN00801029 | Sequencing | Paired-end mapping | 14,389 |
| essv8241713 | deletion | SAMN00001592 | Sequencing | Paired-end mapping | 12,716 |
| essv8241714 | deletion | SAMN00001667 | Sequencing | Paired-end mapping | 12,201 |
| essv8241715 | deletion | SAMN00001609 | Sequencing | Paired-end mapping | 14,604 |
| essv8241716 | deletion | SAMN00001617 | Sequencing | Paired-end mapping | 15,543 |
| essv8241717 | deletion | SAMN00001594 | Sequencing | Paired-end mapping | 12,936 |
| essv8241718 | deletion | SAMN00001674 | Sequencing | Paired-end mapping | 10,842 |
| essv8241719 | deletion | SAMN00797419 | Sequencing | Paired-end mapping | 10,938 |
| essv8241720 | deletion | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
| essv8241722 | deletion | SAMN00001639 | Sequencing | Paired-end mapping | 14,223 |
| essv8241723 | deletion | SAMN00001581 | Sequencing | Paired-end mapping | 12,254 |
| essv8241724 | deletion | SAMN00001615 | Sequencing | Paired-end mapping | 9,351 |
| essv8241725 | deletion | SAMN00801912 | Sequencing | Paired-end mapping | 25,841 |
| essv8241726 | deletion | SAMN00004417 | Sequencing | Paired-end mapping | 8,314 |
| essv8241727 | deletion | SAMN00001584 | Sequencing | Paired-end mapping | 11,452 |
| essv8241728 | deletion | SAMN00801055 | Sequencing | Paired-end mapping | 13,732 |
| essv8241729 | deletion | SAMN00001601 | Sequencing | Paired-end mapping | 14,986 |
| essv8241730 | deletion | SAMN00001589 | Sequencing | Paired-end mapping | 10,468 |
| essv8241731 | deletion | SAMN00001649 | Sequencing | Paired-end mapping | 13,082 |
| essv8241733 | deletion | SAMN00001678 | Sequencing | Paired-end mapping | 11,740 |
| essv8241734 | deletion | SAMN00001546 | Sequencing | Paired-end mapping | 15,275 |
| essv8241735 | deletion | SAMN00797154 | Sequencing | Paired-end mapping | 12,042 |
| essv8241736 | deletion | SAMN00001611 | Sequencing | Paired-end mapping | 14,683 |
| essv8241737 | deletion | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
| essv8241738 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 10,183 |
| essv8241739 | deletion | SAMN00001663 | Sequencing | Paired-end mapping | 12,931 |
| essv8241740 | deletion | SAMN00001645 | Sequencing | Paired-end mapping | 13,185 |
| essv8241741 | deletion | SAMN00801051 | Sequencing | Paired-end mapping | 14,990 |
| essv8241742 | deletion | SAMN00001695 | Sequencing | Paired-end mapping | 37,049 |
| essv8241744 | deletion | SAMN00001693 | Sequencing | Paired-end mapping | 10,093 |
| essv8241745 | deletion | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv8241746 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 12,092 |
| essv8241747 | deletion | SAMN00001554 | Sequencing | Paired-end mapping | 9,542 |
| essv8241748 | deletion | SAMN00001660 | Sequencing | Paired-end mapping | 13,045 |
| essv8241749 | deletion | SAMN00001624 | Sequencing | Paired-end mapping | 10,264 |
| essv8241750 | deletion | SAMN00001671 | Sequencing | Paired-end mapping | 10,275 |
| essv8241751 | deletion | SAMN00001606 | Sequencing | Paired-end mapping | 15,404 |
| essv8241752 | deletion | SAMN00001530 | Sequencing | Paired-end mapping | 9,564 |
| essv8241753 | deletion | SAMN00001534 | Sequencing | Paired-end mapping | 9,499 |
| essv8241755 | deletion | SAMN00001632 | Sequencing | Paired-end mapping | 10,836 |
| essv8241756 | deletion | SAMN00001636 | Sequencing | Paired-end mapping | 14,366 |
| essv8241757 | deletion | SAMN00001644 | Sequencing | Paired-end mapping | 14,069 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8241712 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241713 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241714 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241715 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241716 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241717 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241718 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241719 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241720 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241722 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241723 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241724 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241725 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241726 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241727 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241728 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241729 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241730 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241731 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241733 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241734 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241735 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241736 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241737 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241738 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241739 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241740 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241741 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241742 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241744 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241745 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241746 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241747 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241748 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241749 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241750 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241751 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241752 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241753 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241755 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241756 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241757 | Remapped | Perfect | NC_000019.10:g.(57 769923_57770133)_( 57786563_57786783) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,770,059 (-136, +74) | 57,786,676 (-113, +107) |
| essv8241712 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241713 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241714 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241715 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241716 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241717 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241718 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241719 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241720 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241722 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241723 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241724 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241725 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241726 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241727 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241728 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241729 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241730 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241731 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241733 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241734 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241735 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241736 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241737 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241738 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241739 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241740 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241741 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241742 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241744 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241745 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241746 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241747 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241748 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241749 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241750 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241751 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241752 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241753 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241755 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241756 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241757 | Remapped | Perfect | NC_000019.9:g.(582 81291_58281501)_(5 8297931_58298151)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 58,281,427 (-136, +74) | 58,298,044 (-113, +107) |
| essv8241712 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241713 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241714 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241715 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241716 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241717 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241718 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241719 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241720 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241722 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241723 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241724 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241725 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241726 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241727 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) | ||
| essv8241728 | Submitted genomic | NC_000019.8:g.(629 73103_62973313)_(6 2989743_62989963)d el | NCBI36 (hg18) | NC_000019.8 | Chr19 | 62,973,239 (-136, +74) | 62,989,856 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8241752 | 36 | SAMN00001530 | Digital array | Other | Fail |
| essv8241752 | 38 | SAMN00001530 | Digital array | Other | Fail |
| essv8241753 | 36 | SAMN00001534 | Digital array | Other | Fail |
| essv8241753 | 38 | SAMN00001534 | Digital array | Other | Fail |
| essv8241734 | 36 | SAMN00001546 | Digital array | Other | Fail |
| essv8241734 | 38 | SAMN00001546 | Digital array | Other | Fail |
| essv8241747 | 36 | SAMN00001554 | Digital array | Other | Fail |
| essv8241747 | 38 | SAMN00001554 | Digital array | Other | Fail |
| essv8241720 | 36 | SAMN00001580 | Digital array | Other | Fail |
| essv8241720 | 38 | SAMN00001580 | Digital array | Other | Fail |
| essv8241723 | 36 | SAMN00001581 | Digital array | Other | Fail |
| essv8241723 | 38 | SAMN00001581 | Digital array | Other | Fail |
| essv8241746 | 36 | SAMN00001583 | Digital array | Other | Fail |
| essv8241746 | 38 | SAMN00001583 | Digital array | Other | Fail |
| essv8241727 | 36 | SAMN00001584 | Digital array | Other | Fail |
| essv8241727 | 38 | SAMN00001584 | Digital array | Other | Fail |
| essv8241738 | 36 | SAMN00001588 | Digital array | Other | Fail |
| essv8241738 | 38 | SAMN00001588 | Digital array | Other | Fail |
| essv8241730 | 36 | SAMN00001589 | Digital array | Other | Fail |
| essv8241730 | 38 | SAMN00001589 | Digital array | Other | Fail |
| essv8241713 | 36 | SAMN00001592 | Digital array | Other | Fail |
| essv8241713 | 38 | SAMN00001592 | Digital array | Other | Fail |
| essv8241717 | 36 | SAMN00001594 | Digital array | Other | Fail |
| essv8241717 | 38 | SAMN00001594 | Digital array | Other | Fail |
| essv8241729 | 36 | SAMN00001601 | Digital array | Other | Fail |
| essv8241729 | 38 | SAMN00001601 | Digital array | Other | Fail |
| essv8241751 | 36 | SAMN00001606 | Digital array | Other | Fail |
| essv8241751 | 38 | SAMN00001606 | Digital array | Other | Fail |
| essv8241715 | 36 | SAMN00001609 | Digital array | Other | Fail |
| essv8241715 | 38 | SAMN00001609 | Digital array | Other | Fail |
| essv8241736 | 36 | SAMN00001611 | Digital array | Other | Fail |
| essv8241736 | 38 | SAMN00001611 | Digital array | Other | Fail |
| essv8241724 | 36 | SAMN00001615 | Digital array | Other | Fail |
| essv8241724 | 38 | SAMN00001615 | Digital array | Other | Fail |
| essv8241716 | 36 | SAMN00001617 | Digital array | Other | Fail |
| essv8241716 | 38 | SAMN00001617 | Digital array | Other | Fail |
| essv8241749 | 36 | SAMN00001624 | Digital array | Other | Fail |
| essv8241749 | 38 | SAMN00001624 | Digital array | Other | Fail |
| essv8241755 | 36 | SAMN00001632 | Digital array | Other | Fail |
| essv8241755 | 38 | SAMN00001632 | Digital array | Other | Fail |
| essv8241756 | 36 | SAMN00001636 | Digital array | Other | Fail |
| essv8241756 | 38 | SAMN00001636 | Digital array | Other | Fail |
| essv8241722 | 36 | SAMN00001639 | Digital array | Other | Fail |
| essv8241722 | 38 | SAMN00001639 | Digital array | Other | Fail |
| essv8241757 | 36 | SAMN00001644 | Digital array | Other | Fail |
| essv8241757 | 38 | SAMN00001644 | Digital array | Other | Fail |
| essv8241740 | 36 | SAMN00001645 | Digital array | Other | Fail |
| essv8241740 | 38 | SAMN00001645 | Digital array | Other | Fail |
| essv8241731 | 36 | SAMN00001649 | Digital array | Other | Fail |
| essv8241731 | 38 | SAMN00001649 | Digital array | Other | Fail |
| essv8241748 | 36 | SAMN00001660 | Digital array | Other | Fail |
| essv8241748 | 38 | SAMN00001660 | Digital array | Other | Fail |
| essv8241739 | 36 | SAMN00001663 | Digital array | Other | Fail |
| essv8241739 | 38 | SAMN00001663 | Digital array | Other | Fail |
| essv8241714 | 36 | SAMN00001667 | Digital array | Other | Fail |
| essv8241714 | 38 | SAMN00001667 | Digital array | Other | Fail |
| essv8241750 | 36 | SAMN00001671 | Digital array | Other | Fail |
| essv8241750 | 38 | SAMN00001671 | Digital array | Other | Fail |
| essv8241718 | 36 | SAMN00001674 | Digital array | Other | Fail |
| essv8241718 | 38 | SAMN00001674 | Digital array | Other | Fail |
| essv8241733 | 36 | SAMN00001678 | Digital array | Other | Fail |
| essv8241733 | 38 | SAMN00001678 | Digital array | Other | Fail |
| essv8241744 | 36 | SAMN00001693 | Digital array | Other | Fail |
| essv8241744 | 38 | SAMN00001693 | Digital array | Other | Fail |
| essv8241742 | 36 | SAMN00001695 | Digital array | Other | Fail |
| essv8241742 | 38 | SAMN00001695 | Digital array | Other | Fail |
| essv8241726 | 36 | SAMN00004417 | Digital array | Other | Fail |
| essv8241726 | 38 | SAMN00004417 | Digital array | Other | Fail |
| essv8241735 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv8241735 | 38 | SAMN00797154 | Digital array | Other | Fail |
| essv8241719 | 36 | SAMN00797419 | Digital array | Other | Fail |
| essv8241719 | 38 | SAMN00797419 | Digital array | Other | Fail |
| essv8241745 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv8241745 | 38 | SAMN00800266 | Digital array | Other | Fail |
| essv8241712 | 36 | SAMN00801029 | Digital array | Other | Fail |
| essv8241712 | 38 | SAMN00801029 | Digital array | Other | Fail |
| essv8241741 | 36 | SAMN00801051 | Digital array | Other | Fail |
| essv8241741 | 38 | SAMN00801051 | Digital array | Other | Fail |
| essv8241728 | 36 | SAMN00801055 | Digital array | Other | Fail |
| essv8241728 | 38 | SAMN00801055 | Digital array | Other | Fail |
| essv8241737 | 36 | SAMN00801888 | Digital array | Other | Fail |
| essv8241737 | 38 | SAMN00801888 | Digital array | Other | Fail |
| essv8241725 | 36 | SAMN00801912 | Digital array | Other | Fail |
| essv8241725 | 38 | SAMN00801912 | Digital array | Other | Fail |