esv2672907
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:61
- Validation:Yes
- Clinical Assertions: No
- Region Size:24,056
- Description:High quality site
- 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: 709 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 709 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2672907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| esv2672907 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5400170 | deletion | SAMN00006389 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,662 |
| essv5406988 | deletion | SAMN00001189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,771 |
| essv5444660 | deletion | SAMN00016977 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv5445950 | deletion | SAMN00001548 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,311 |
| essv5450074 | deletion | SAMN00001192 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,334 |
| essv5480300 | deletion | SAMN00004673 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 856 |
| essv5504499 | deletion | SAMN00006400 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,503 |
| essv5519751 | deletion | SAMN00004675 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,496 |
| essv5521077 | deletion | SAMN00009247 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,262 |
| essv5558289 | deletion | SAMN00001165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,213 |
| essv5636938 | deletion | SAMN00001693 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,362 |
| essv5671477 | deletion | SAMN00007743 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,615 |
| essv5704953 | deletion | SAMN00001139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,535 |
| essv5715483 | deletion | SAMN00009088 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
| essv5737667 | deletion | SAMN00006583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,292 |
| essv5738881 | deletion | SAMN00006394 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,648 |
| essv5766758 | deletion | SAMN00007750 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,332 |
| essv5778813 | deletion | SAMN00001190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
| essv5782994 | deletion | SAMN00000397 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 960 |
| essv5810799 | deletion | SAMN00009105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,619 |
| essv5856099 | deletion | SAMN00801487 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,035 |
| essv5861544 | deletion | SAMN00001258 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 799 |
| essv5886550 | deletion | SAMN00009104 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,697 |
| essv5913049 | deletion | SAMN00007749 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,120 |
| essv5927688 | deletion | SAMN00000519 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 949 |
| essv5937277 | deletion | SAMN00006355 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv5957319 | deletion | SAMN00007770 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 936 |
| essv5975585 | deletion | SAMN00001678 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,467 |
| essv5977757 | deletion | SAMN00006347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,474 |
| essv5979096 | deletion | SAMN00001556 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,169 |
| essv6032969 | deletion | SAMN00009165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,138 |
| essv6057307 | deletion | SAMN00014330 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
| essv6089274 | deletion | SAMN00001248 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 840 |
| essv6091791 | deletion | SAMN00006392 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,673 |
| essv6111568 | deletion | SAMN00007789 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,199 |
| essv6141452 | deletion | SAMN00007798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,207 |
| essv6145841 | deletion | SAMN00004670 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,005 |
| essv6153484 | deletion | SAMN00009187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,487 |
| essv6205167 | deletion | SAMN00009145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,845 |
| essv6221938 | deletion | SAMN00000478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,349 |
| essv6248677 | deletion | SAMN00006425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,062 |
| essv6251824 | deletion | SAMN00000474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,357 |
| essv6269291 | deletion | SAMN00007823 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
| essv6272223 | deletion | SAMN00001107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
| essv6303888 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
| essv6332354 | deletion | SAMN00006360 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv6335905 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv6370105 | deletion | SAMN00009106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,631 |
| essv6371425 | deletion | SAMN00009089 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,584 |
| essv6379474 | deletion | SAMN00001534 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 984 |
| essv6401856 | deletion | SAMN00014332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,448 |
| essv6411414 | deletion | SAMN00801680 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,030 |
| essv6416890 | deletion | SAMN00007700 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,460 |
| essv6451063 | deletion | SAMN00009163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
| essv6479591 | deletion | SAMN00006580 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
| essv6480043 | deletion | SAMN00001227 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,193 |
| essv6483211 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv6498274 | deletion | SAMN00800947 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,252 |
| essv6553631 | deletion | SAMN00001194 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
| essv6565479 | deletion | SAMN00006363 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,294 |
| essv6589650 | deletion | SAMN00007756 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,140 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5400170 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5406988 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5444660 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5445950 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5450074 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5480300 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5504499 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5519751 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5521077 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5558289 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5636938 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5671477 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5704953 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5715483 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5737667 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5738881 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5766758 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5778813 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5782994 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5810799 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5856099 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5861544 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5886550 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5913049 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5927688 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5937277 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5957319 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5975585 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5977757 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5979096 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6032969 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6057307 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6089274 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6091791 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6111568 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6141452 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6145841 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6153484 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6205167 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6221938 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6248677 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6251824 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6269291 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6272223 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6303888 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6332354 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6335905 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6370105 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6371425 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6379474 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6401856 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6411414 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6416890 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6451063 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6479591 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6480043 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6483211 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6498274 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6553631 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6565479 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv6589650 | Remapped | Perfect | NC_000013.11:g.686 70570_68694625delA TTTACTAA | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,570 | 68,694,625 |
| essv5400170 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5406988 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5444660 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5445950 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5450074 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5480300 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5504499 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5519751 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5521077 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5558289 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5636938 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5671477 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5704953 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5715483 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5737667 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5738881 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5766758 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5778813 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5782994 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5810799 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5856099 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5861544 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5886550 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5913049 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5927688 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5937277 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5957319 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5975585 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5977757 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv5979096 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6032969 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6057307 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6089274 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6091791 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6111568 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6141452 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6145841 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6153484 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 | ||
| essv6205167 | Submitted genomic | NC_000013.10:g.692 44702_69268757delA TTTACTAA | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,244,702 | 69,268,757 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5782994 | 9 | SAMN00000397 | Oligo aCGH | Probe signal intensity | Pass |
| essv6251824 | 9 | SAMN00000474 | Oligo aCGH | Probe signal intensity | Pass |
| essv6221938 | 9 | SAMN00000478 | Oligo aCGH | Probe signal intensity | Pass |
| essv5927688 | 9 | SAMN00000519 | Oligo aCGH | Probe signal intensity | Pass |
| essv6272223 | 9 | SAMN00001107 | Oligo aCGH | Probe signal intensity | Pass |
| essv5704953 | 9 | SAMN00001139 | Oligo aCGH | Probe signal intensity | Pass |
| essv6303888 | 9 | SAMN00001143 | Oligo aCGH | Probe signal intensity | Pass |
| essv5558289 | 9 | SAMN00001165 | Oligo aCGH | Probe signal intensity | Pass |
| essv6483211 | 9 | SAMN00001170 | Oligo aCGH | Probe signal intensity | Pass |
| essv6335905 | 9 | SAMN00001174 | Oligo aCGH | Probe signal intensity | Pass |
| essv5406988 | 9 | SAMN00001189 | Oligo aCGH | Probe signal intensity | Pass |
| essv5778813 | 9 | SAMN00001190 | Oligo aCGH | Probe signal intensity | Pass |
| essv5450074 | 9 | SAMN00001192 | Oligo aCGH | Probe signal intensity | Pass |
| essv6553631 | 9 | SAMN00001194 | Oligo aCGH | Probe signal intensity | Pass |
| essv6480043 | 9 | SAMN00001227 | Oligo aCGH | Probe signal intensity | Pass |
| essv6089274 | 9 | SAMN00001248 | Oligo aCGH | Probe signal intensity | Pass |
| essv5861544 | 9 | SAMN00001258 | Oligo aCGH | Probe signal intensity | Pass |
| essv6379474 | 9 | SAMN00001534 | Oligo aCGH | Probe signal intensity | Pass |
| essv5445950 | 9 | SAMN00001548 | Oligo aCGH | Probe signal intensity | Pass |
| essv5979096 | 9 | SAMN00001556 | Oligo aCGH | Probe signal intensity | Pass |
| essv5975585 | 9 | SAMN00001678 | Oligo aCGH | Probe signal intensity | Pass |
| essv5636938 | 9 | SAMN00001693 | Oligo aCGH | Probe signal intensity | Pass |
| essv6145841 | 9 | SAMN00004670 | Oligo aCGH | Probe signal intensity | Pass |
| essv5480300 | 9 | SAMN00004673 | Oligo aCGH | Probe signal intensity | Pass |
| essv5519751 | 9 | SAMN00004675 | Oligo aCGH | Probe signal intensity | Pass |
| essv5977757 | 9 | SAMN00006347 | Oligo aCGH | Probe signal intensity | Pass |
| essv5937277 | 9 | SAMN00006355 | Oligo aCGH | Probe signal intensity | Pass |
| essv6332354 | 9 | SAMN00006360 | Oligo aCGH | Probe signal intensity | Pass |
| essv6565479 | 9 | SAMN00006363 | Oligo aCGH | Probe signal intensity | Pass |
| essv5400170 | 9 | SAMN00006389 | Oligo aCGH | Probe signal intensity | Pass |
| essv6091791 | 9 | SAMN00006392 | Oligo aCGH | Probe signal intensity | Pass |
| essv5738881 | 9 | SAMN00006394 | Oligo aCGH | Probe signal intensity | Pass |
| essv5504499 | 9 | SAMN00006400 | Oligo aCGH | Probe signal intensity | Pass |
| essv6248677 | 9 | SAMN00006425 | Oligo aCGH | Probe signal intensity | Pass |
| essv6479591 | 9 | SAMN00006580 | Oligo aCGH | Probe signal intensity | Pass |
| essv5737667 | 9 | SAMN00006583 | Oligo aCGH | Probe signal intensity | Pass |
| essv6416890 | 9 | SAMN00007700 | Oligo aCGH | Probe signal intensity | Pass |
| essv5671477 | 9 | SAMN00007743 | Oligo aCGH | Probe signal intensity | Pass |
| essv5913049 | 9 | SAMN00007749 | Oligo aCGH | Probe signal intensity | Pass |
| essv5766758 | 9 | SAMN00007750 | Oligo aCGH | Probe signal intensity | Pass |
| essv6589650 | 9 | SAMN00007756 | Oligo aCGH | Probe signal intensity | Pass |
| essv5957319 | 9 | SAMN00007770 | Oligo aCGH | Probe signal intensity | Pass |
| essv6111568 | 9 | SAMN00007789 | Oligo aCGH | Probe signal intensity | Pass |
| essv6141452 | 9 | SAMN00007798 | Oligo aCGH | Probe signal intensity | Pass |
| essv6269291 | 9 | SAMN00007823 | Oligo aCGH | Probe signal intensity | Pass |
| essv5715483 | 9 | SAMN00009088 | Oligo aCGH | Probe signal intensity | Pass |
| essv6371425 | 9 | SAMN00009089 | Oligo aCGH | Probe signal intensity | Pass |
| essv5886550 | 9 | SAMN00009104 | Oligo aCGH | Probe signal intensity | Pass |
| essv5810799 | 9 | SAMN00009105 | Oligo aCGH | Probe signal intensity | Pass |
| essv6370105 | 9 | SAMN00009106 | Oligo aCGH | Probe signal intensity | Pass |
| essv6205167 | 9 | SAMN00009145 | Oligo aCGH | Probe signal intensity | Pass |
| essv6451063 | 9 | SAMN00009163 | Oligo aCGH | Probe signal intensity | Pass |
| essv6032969 | 9 | SAMN00009165 | Oligo aCGH | Probe signal intensity | Pass |
| essv6153484 | 9 | SAMN00009187 | Oligo aCGH | Probe signal intensity | Pass |
| essv5521077 | 9 | SAMN00009247 | Oligo aCGH | Probe signal intensity | Pass |
| essv6057307 | 9 | SAMN00014330 | Oligo aCGH | Probe signal intensity | Pass |
| essv6401856 | 9 | SAMN00014332 | Oligo aCGH | Probe signal intensity | Pass |
| essv5444660 | 9 | SAMN00016977 | Oligo aCGH | Probe signal intensity | Pass |
| essv6498274 | 9 | SAMN00800947 | Oligo aCGH | Probe signal intensity | Pass |
| essv5856099 | 9 | SAMN00801487 | Oligo aCGH | Probe signal intensity | Pass |
| essv6411414 | 9 | SAMN00801680 | Oligo aCGH | Probe signal intensity | Pass |
| essv5782994 | 7 | SAMN00000397 | SNP array | Probe signal intensity | Pass |
| essv6251824 | 7 | SAMN00000474 | SNP array | Probe signal intensity | Pass |
| essv6221938 | 7 | SAMN00000478 | SNP array | Probe signal intensity | Pass |
| essv5927688 | 7 | SAMN00000519 | SNP array | Probe signal intensity | Pass |
| essv6272223 | 7 | SAMN00001107 | SNP array | Probe signal intensity | Pass |
| essv5704953 | 7 | SAMN00001139 | SNP array | Probe signal intensity | Pass |
| essv6303888 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
| essv5558289 | 7 | SAMN00001165 | SNP array | Probe signal intensity | Pass |
| essv6483211 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
| essv6335905 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv5406988 | 7 | SAMN00001189 | SNP array | Probe signal intensity | Pass |
| essv5778813 | 7 | SAMN00001190 | SNP array | Probe signal intensity | Pass |
| essv5450074 | 7 | SAMN00001192 | SNP array | Probe signal intensity | Pass |
| essv6553631 | 7 | SAMN00001194 | SNP array | Probe signal intensity | Pass |
| essv6480043 | 7 | SAMN00001227 | SNP array | Probe signal intensity | Pass |
| essv6089274 | 7 | SAMN00001248 | SNP array | Probe signal intensity | Pass |
| essv5861544 | 7 | SAMN00001258 | SNP array | Probe signal intensity | Pass |
| essv6379474 | 7 | SAMN00001534 | SNP array | Probe signal intensity | Pass |
| essv5445950 | 7 | SAMN00001548 | SNP array | Probe signal intensity | Pass |
| essv5979096 | 7 | SAMN00001556 | SNP array | Probe signal intensity | Pass |
| essv5975585 | 7 | SAMN00001678 | SNP array | Probe signal intensity | Pass |
| essv5636938 | 7 | SAMN00001693 | SNP array | Probe signal intensity | Pass |
| essv6145841 | 7 | SAMN00004670 | SNP array | Probe signal intensity | Pass |
| essv5480300 | 7 | SAMN00004673 | SNP array | Probe signal intensity | Pass |
| essv5519751 | 7 | SAMN00004675 | SNP array | Probe signal intensity | Pass |
| essv5977757 | 7 | SAMN00006347 | SNP array | Probe signal intensity | Pass |
| essv5937277 | 7 | SAMN00006355 | SNP array | Probe signal intensity | Pass |
| essv6332354 | 7 | SAMN00006360 | SNP array | Probe signal intensity | Pass |
| essv6565479 | 7 | SAMN00006363 | SNP array | Probe signal intensity | Pass |
| essv5400170 | 7 | SAMN00006389 | SNP array | Probe signal intensity | Pass |
| essv6091791 | 7 | SAMN00006392 | SNP array | Probe signal intensity | Pass |
| essv5738881 | 7 | SAMN00006394 | SNP array | Probe signal intensity | Pass |
| essv5504499 | 7 | SAMN00006400 | SNP array | Probe signal intensity | Pass |
| essv6248677 | 7 | SAMN00006425 | SNP array | Probe signal intensity | Pass |
| essv6479591 | 7 | SAMN00006580 | SNP array | Probe signal intensity | Pass |
| essv5737667 | 7 | SAMN00006583 | SNP array | Probe signal intensity | Pass |
| essv6416890 | 7 | SAMN00007700 | SNP array | Probe signal intensity | Pass |
| essv5671477 | 7 | SAMN00007743 | SNP array | Probe signal intensity | Pass |
| essv5913049 | 7 | SAMN00007749 | SNP array | Probe signal intensity | Pass |
| essv5766758 | 7 | SAMN00007750 | SNP array | Probe signal intensity | Pass |
| essv6589650 | 7 | SAMN00007756 | SNP array | Probe signal intensity | Pass |
| essv5957319 | 7 | SAMN00007770 | SNP array | Probe signal intensity | Pass |
| essv6111568 | 7 | SAMN00007789 | SNP array | Probe signal intensity | Pass |
| essv6141452 | 7 | SAMN00007798 | SNP array | Probe signal intensity | Pass |
| essv6269291 | 7 | SAMN00007823 | SNP array | Probe signal intensity | Pass |
| essv5715483 | 7 | SAMN00009088 | SNP array | Probe signal intensity | Pass |
| essv6371425 | 7 | SAMN00009089 | SNP array | Probe signal intensity | Pass |
| essv5886550 | 7 | SAMN00009104 | SNP array | Probe signal intensity | Pass |
| essv5810799 | 7 | SAMN00009105 | SNP array | Probe signal intensity | Pass |
| essv6370105 | 7 | SAMN00009106 | SNP array | Probe signal intensity | Pass |
| essv6205167 | 7 | SAMN00009145 | SNP array | Probe signal intensity | Pass |
| essv6451063 | 7 | SAMN00009163 | SNP array | Probe signal intensity | Pass |
| essv6032969 | 7 | SAMN00009165 | SNP array | Probe signal intensity | Pass |
| essv6153484 | 7 | SAMN00009187 | SNP array | Probe signal intensity | Pass |
| essv5521077 | 7 | SAMN00009247 | SNP array | Probe signal intensity | Pass |
| essv6057307 | 7 | SAMN00014330 | SNP array | Probe signal intensity | Pass |
| essv6401856 | 7 | SAMN00014332 | SNP array | Probe signal intensity | Pass |
| essv5444660 | 7 | SAMN00016977 | SNP array | Probe signal intensity | Pass |
| essv6498274 | 7 | SAMN00800947 | SNP array | Probe signal intensity | Pass |
| essv5856099 | 7 | SAMN00801487 | SNP array | Probe signal intensity | Pass |
| essv6411414 | 7 | SAMN00801680 | SNP array | Probe signal intensity | Pass |