esv2678686
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:67
- Validation:Yes
- Clinical Assertions: No
- Region Size:8,204
- 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: 398 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2678686 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| esv2678686 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5420246 | deletion | SAMN00004661 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,025 |
| essv5461015 | deletion | SAMN00800266 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
| essv5464986 | deletion | SAMN00006396 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv5481035 | deletion | SAMN00000478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,349 |
| essv5517759 | deletion | SAMN00001105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 859 |
| essv5535025 | deletion | SAMN00006384 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,564 |
| essv5567806 | deletion | SAMN00009126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,897 |
| essv5576000 | deletion | SAMN00001582 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv5612949 | deletion | SAMN00001176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
| essv5624210 | deletion | SAMN00009097 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv5630002 | deletion | SAMN00006378 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 972 |
| essv5721970 | deletion | SAMN00009102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,564 |
| essv5754034 | deletion | SAMN00001160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
| essv5764883 | deletion | SAMN00001280 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 889 |
| essv5793304 | deletion | SAMN00009106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,631 |
| essv5795293 | deletion | SAMN00797419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,200 |
| essv5799746 | deletion | SAMN00006598 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,574 |
| essv5820224 | deletion | SAMN00007735 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv5822121 | deletion | SAMN00797025 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,381 |
| essv5854991 | deletion | SAMN00007744 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,376 |
| essv5885106 | deletion | SAMN00801049 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,329 |
| essv5888830 | deletion | SAMN00001583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,451 |
| essv5907039 | deletion | SAMN00000484 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 848 |
| essv5910582 | deletion | SAMN00007823 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
| essv5943455 | deletion | SAMN00000546 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 621 |
| essv5963200 | deletion | SAMN00800258 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,156 |
| essv5983429 | deletion | SAMN00001125 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,568 |
| essv6005373 | deletion | SAMN00009145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,845 |
| essv6059779 | deletion | SAMN00007740 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,557 |
| essv6060430 | deletion | SAMN00007818 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,316 |
| essv6063783 | deletion | SAMN00009159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,606 |
| essv6076609 | deletion | SAMN00016976 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,192 |
| essv6086605 | deletion | SAMN00001133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
| essv6121768 | deletion | SAMN00001186 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,212 |
| essv6136742 | deletion | SAMN00000400 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 859 |
| essv6157970 | deletion | SAMN00007815 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,057 |
| essv6158078 | deletion | SAMN00009193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,085 |
| essv6186897 | deletion | SAMN00001627 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,454 |
| essv6222124 | deletion | SAMN00000483 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,009 |
| essv6262729 | deletion | SAMN00009250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,377 |
| essv6265543 | deletion | SAMN00006398 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,645 |
| essv6275964 | deletion | SAMN00001305 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 955 |
| essv6285033 | deletion | SAMN00001148 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv6298152 | deletion | SAMN00009100 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,675 |
| essv6305683 | deletion | SAMN00000415 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
| essv6306685 | deletion | SAMN00001107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
| essv6338111 | deletion | SAMN00009175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
| essv6340871 | deletion | SAMN00000482 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 982 |
| essv6372876 | deletion | SAMN00004651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv6381110 | deletion | SAMN00001106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 953 |
| essv6382396 | deletion | SAMN00006377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,610 |
| essv6389316 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
| essv6394194 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
| essv6416844 | deletion | SAMN00001295 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 922 |
| essv6455481 | deletion | SAMN00006386 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,723 |
| essv6457264 | deletion | SAMN00001696 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,202 |
| essv6475698 | deletion | SAMN00016981 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 897 |
| essv6485391 | deletion | SAMN00016969 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,131 |
| essv6505314 | deletion | SAMN00001695 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,174 |
| essv6506788 | deletion | SAMN00000573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
| essv6512572 | deletion | SAMN00006483 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 962 |
| essv6532634 | deletion | SAMN00001590 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,510 |
| essv6557215 | deletion | SAMN00001320 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 842 |
| essv6558275 | deletion | SAMN00001158 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,358 |
| essv6558965 | deletion | SAMN00001183 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,354 |
| essv6575232 | deletion | SAMN00009189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
| essv6579412 | deletion | SAMN00001142 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,523 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5420246 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5461015 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5464986 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5481035 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5517759 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5535025 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5567806 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5576000 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5612949 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5624210 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5630002 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5721970 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5754034 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5764883 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5793304 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5795293 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5799746 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5820224 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5822121 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5854991 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5885106 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5888830 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5907039 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5910582 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5943455 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5963200 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5983429 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6005373 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6059779 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6060430 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6063783 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6076609 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6086605 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6121768 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6136742 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6157970 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6158078 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6186897 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6222124 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6262729 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6265543 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6275964 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6285033 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6298152 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6305683 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6306685 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6338111 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6340871 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6372876 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6381110 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6382396 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6389316 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6394194 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6416844 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6455481 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6457264 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6475698 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6485391 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6505314 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6506788 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6512572 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6532634 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6557215 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6558275 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6558965 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6575232 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv6579412 | Remapped | Perfect | NC_000008.11:g.843 48731_84356934delC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,348,731 | 84,356,934 |
| essv5420246 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5461015 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5464986 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5481035 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5517759 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5535025 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5567806 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5576000 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5612949 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5624210 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5630002 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5721970 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5754034 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5764883 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5793304 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5795293 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5799746 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5820224 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5822121 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5854991 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5885106 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5888830 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5907039 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5910582 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5943455 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5963200 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv5983429 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv6005373 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv6059779 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv6060430 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv6063783 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv6076609 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 | ||
| essv6086605 | Submitted genomic | NC_000008.10:g.852 60966_85269169delC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,260,966 | 85,269,169 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6136742 | 9 | SAMN00000400 | Oligo aCGH | Probe signal intensity | Pass |
| essv6305683 | 9 | SAMN00000415 | Oligo aCGH | Probe signal intensity | Pass |
| essv5481035 | 9 | SAMN00000478 | Oligo aCGH | Probe signal intensity | Pass |
| essv6340871 | 9 | SAMN00000482 | Oligo aCGH | Probe signal intensity | Pass |
| essv6222124 | 9 | SAMN00000483 | Oligo aCGH | Probe signal intensity | Pass |
| essv5907039 | 9 | SAMN00000484 | Oligo aCGH | Probe signal intensity | Pass |
| essv5943455 | 9 | SAMN00000546 | Oligo aCGH | Probe signal intensity | Pass |
| essv6506788 | 9 | SAMN00000573 | Oligo aCGH | Probe signal intensity | Pass |
| essv5517759 | 9 | SAMN00001105 | Oligo aCGH | Probe signal intensity | Pass |
| essv6381110 | 9 | SAMN00001106 | Oligo aCGH | Probe signal intensity | Pass |
| essv6306685 | 9 | SAMN00001107 | Oligo aCGH | Probe signal intensity | Pass |
| essv5983429 | 9 | SAMN00001125 | Oligo aCGH | Probe signal intensity | Pass |
| essv6086605 | 9 | SAMN00001133 | Oligo aCGH | Probe signal intensity | Pass |
| essv6579412 | 9 | SAMN00001142 | Oligo aCGH | Probe signal intensity | Pass |
| essv6285033 | 9 | SAMN00001148 | Oligo aCGH | Probe signal intensity | Pass |
| essv6389316 | 9 | SAMN00001155 | Oligo aCGH | Probe signal intensity | Pass |
| essv6558275 | 9 | SAMN00001158 | Oligo aCGH | Probe signal intensity | Pass |
| essv5754034 | 9 | SAMN00001160 | Oligo aCGH | Probe signal intensity | Pass |
| essv5612949 | 9 | SAMN00001176 | Oligo aCGH | Probe signal intensity | Pass |
| essv6394194 | 9 | SAMN00001180 | Oligo aCGH | Probe signal intensity | Pass |
| essv6558965 | 9 | SAMN00001183 | Oligo aCGH | Probe signal intensity | Pass |
| essv6121768 | 9 | SAMN00001186 | Oligo aCGH | Probe signal intensity | Pass |
| essv5764883 | 9 | SAMN00001280 | Oligo aCGH | Probe signal intensity | Pass |
| essv6416844 | 9 | SAMN00001295 | Oligo aCGH | Probe signal intensity | Pass |
| essv6275964 | 9 | SAMN00001305 | Oligo aCGH | Probe signal intensity | Pass |
| essv6557215 | 9 | SAMN00001320 | Oligo aCGH | Probe signal intensity | Pass |
| essv5576000 | 9 | SAMN00001582 | Oligo aCGH | Probe signal intensity | Pass |
| essv5888830 | 9 | SAMN00001583 | Oligo aCGH | Probe signal intensity | Pass |
| essv6532634 | 9 | SAMN00001590 | Oligo aCGH | Probe signal intensity | Pass |
| essv6186897 | 9 | SAMN00001627 | Oligo aCGH | Probe signal intensity | Pass |
| essv6505314 | 9 | SAMN00001695 | Oligo aCGH | Probe signal intensity | Pass |
| essv6457264 | 9 | SAMN00001696 | Oligo aCGH | Probe signal intensity | Pass |
| essv6372876 | 9 | SAMN00004651 | Oligo aCGH | Probe signal intensity | Pass |
| essv5420246 | 9 | SAMN00004661 | Oligo aCGH | Probe signal intensity | Pass |
| essv6382396 | 9 | SAMN00006377 | Oligo aCGH | Probe signal intensity | Pass |
| essv5630002 | 9 | SAMN00006378 | Oligo aCGH | Probe signal intensity | Pass |
| essv5535025 | 9 | SAMN00006384 | Oligo aCGH | Probe signal intensity | Pass |
| essv6455481 | 9 | SAMN00006386 | Oligo aCGH | Probe signal intensity | Pass |
| essv5464986 | 9 | SAMN00006396 | Oligo aCGH | Probe signal intensity | Pass |
| essv6265543 | 9 | SAMN00006398 | Oligo aCGH | Probe signal intensity | Pass |
| essv6512572 | 9 | SAMN00006483 | Oligo aCGH | Probe signal intensity | Pass |
| essv5799746 | 9 | SAMN00006598 | Oligo aCGH | Probe signal intensity | Pass |
| essv5820224 | 9 | SAMN00007735 | Oligo aCGH | Probe signal intensity | Pass |
| essv6059779 | 9 | SAMN00007740 | Oligo aCGH | Probe signal intensity | Pass |
| essv5854991 | 9 | SAMN00007744 | Oligo aCGH | Probe signal intensity | Pass |
| essv6157970 | 9 | SAMN00007815 | Oligo aCGH | Probe signal intensity | Pass |
| essv6060430 | 9 | SAMN00007818 | Oligo aCGH | Probe signal intensity | Pass |
| essv5910582 | 9 | SAMN00007823 | Oligo aCGH | Probe signal intensity | Pass |
| essv5624210 | 9 | SAMN00009097 | Oligo aCGH | Probe signal intensity | Pass |
| essv6298152 | 9 | SAMN00009100 | Oligo aCGH | Probe signal intensity | Pass |
| essv5721970 | 9 | SAMN00009102 | Oligo aCGH | Probe signal intensity | Pass |
| essv5793304 | 9 | SAMN00009106 | Oligo aCGH | Probe signal intensity | Pass |
| essv5567806 | 9 | SAMN00009126 | Oligo aCGH | Probe signal intensity | Pass |
| essv6005373 | 9 | SAMN00009145 | Oligo aCGH | Probe signal intensity | Pass |
| essv6063783 | 9 | SAMN00009159 | Oligo aCGH | Probe signal intensity | Pass |
| essv6338111 | 9 | SAMN00009175 | Oligo aCGH | Probe signal intensity | Pass |
| essv6575232 | 9 | SAMN00009189 | Oligo aCGH | Probe signal intensity | Pass |
| essv6158078 | 9 | SAMN00009193 | Oligo aCGH | Probe signal intensity | Pass |
| essv6262729 | 9 | SAMN00009250 | Oligo aCGH | Probe signal intensity | Pass |
| essv6485391 | 9 | SAMN00016969 | Oligo aCGH | Probe signal intensity | Pass |
| essv6076609 | 9 | SAMN00016976 | Oligo aCGH | Probe signal intensity | Pass |
| essv6475698 | 9 | SAMN00016981 | Oligo aCGH | Probe signal intensity | Pass |
| essv5822121 | 9 | SAMN00797025 | Oligo aCGH | Probe signal intensity | Pass |
| essv5795293 | 9 | SAMN00797419 | Oligo aCGH | Probe signal intensity | Pass |
| essv5963200 | 9 | SAMN00800258 | Oligo aCGH | Probe signal intensity | Pass |
| essv5461015 | 9 | SAMN00800266 | Oligo aCGH | Probe signal intensity | Pass |
| essv5885106 | 9 | SAMN00801049 | Oligo aCGH | Probe signal intensity | Pass |
| essv6136742 | 7 | SAMN00000400 | SNP array | Probe signal intensity | Pass |
| essv6305683 | 7 | SAMN00000415 | SNP array | Probe signal intensity | Pass |
| essv5481035 | 7 | SAMN00000478 | SNP array | Probe signal intensity | Pass |
| essv6340871 | 7 | SAMN00000482 | SNP array | Probe signal intensity | Pass |
| essv6222124 | 7 | SAMN00000483 | SNP array | Probe signal intensity | Pass |
| essv5907039 | 7 | SAMN00000484 | SNP array | Probe signal intensity | Pass |
| essv5943455 | 7 | SAMN00000546 | SNP array | Probe signal intensity | Pass |
| essv6506788 | 7 | SAMN00000573 | SNP array | Probe signal intensity | Pass |
| essv5517759 | 7 | SAMN00001105 | SNP array | Probe signal intensity | Pass |
| essv6381110 | 7 | SAMN00001106 | SNP array | Probe signal intensity | Pass |
| essv6306685 | 7 | SAMN00001107 | SNP array | Probe signal intensity | Pass |
| essv5983429 | 7 | SAMN00001125 | SNP array | Probe signal intensity | Pass |
| essv6086605 | 7 | SAMN00001133 | SNP array | Probe signal intensity | Pass |
| essv6579412 | 7 | SAMN00001142 | SNP array | Probe signal intensity | Pass |
| essv6285033 | 7 | SAMN00001148 | SNP array | Probe signal intensity | Pass |
| essv6389316 | 7 | SAMN00001155 | SNP array | Probe signal intensity | Pass |
| essv6558275 | 7 | SAMN00001158 | SNP array | Probe signal intensity | Pass |
| essv5754034 | 7 | SAMN00001160 | SNP array | Probe signal intensity | Pass |
| essv5612949 | 7 | SAMN00001176 | SNP array | Probe signal intensity | Pass |
| essv6394194 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
| essv6558965 | 7 | SAMN00001183 | SNP array | Probe signal intensity | Pass |
| essv6121768 | 7 | SAMN00001186 | SNP array | Probe signal intensity | Pass |
| essv5764883 | 7 | SAMN00001280 | SNP array | Probe signal intensity | Pass |
| essv6416844 | 7 | SAMN00001295 | SNP array | Probe signal intensity | Pass |
| essv6275964 | 7 | SAMN00001305 | SNP array | Probe signal intensity | Pass |
| essv6557215 | 7 | SAMN00001320 | SNP array | Probe signal intensity | Pass |
| essv5576000 | 7 | SAMN00001582 | SNP array | Probe signal intensity | Pass |
| essv5888830 | 7 | SAMN00001583 | SNP array | Probe signal intensity | Pass |
| essv6532634 | 7 | SAMN00001590 | SNP array | Probe signal intensity | Pass |
| essv6186897 | 7 | SAMN00001627 | SNP array | Probe signal intensity | Pass |
| essv6505314 | 7 | SAMN00001695 | SNP array | Probe signal intensity | Pass |
| essv6457264 | 7 | SAMN00001696 | SNP array | Probe signal intensity | Pass |
| essv6372876 | 7 | SAMN00004651 | SNP array | Probe signal intensity | Pass |
| essv5420246 | 7 | SAMN00004661 | SNP array | Probe signal intensity | Pass |
| essv6382396 | 7 | SAMN00006377 | SNP array | Probe signal intensity | Pass |
| essv5630002 | 7 | SAMN00006378 | SNP array | Probe signal intensity | Pass |
| essv5535025 | 7 | SAMN00006384 | SNP array | Probe signal intensity | Pass |
| essv6455481 | 7 | SAMN00006386 | SNP array | Probe signal intensity | Pass |
| essv5464986 | 7 | SAMN00006396 | SNP array | Probe signal intensity | Pass |
| essv6265543 | 7 | SAMN00006398 | SNP array | Probe signal intensity | Pass |
| essv6512572 | 7 | SAMN00006483 | SNP array | Probe signal intensity | Pass |
| essv5799746 | 7 | SAMN00006598 | SNP array | Probe signal intensity | Pass |
| essv5820224 | 7 | SAMN00007735 | SNP array | Probe signal intensity | Pass |
| essv6059779 | 7 | SAMN00007740 | SNP array | Probe signal intensity | Pass |
| essv5854991 | 7 | SAMN00007744 | SNP array | Probe signal intensity | Pass |
| essv6157970 | 7 | SAMN00007815 | SNP array | Probe signal intensity | Pass |
| essv6060430 | 7 | SAMN00007818 | SNP array | Probe signal intensity | Pass |
| essv5910582 | 7 | SAMN00007823 | SNP array | Probe signal intensity | Pass |
| essv5624210 | 7 | SAMN00009097 | SNP array | Probe signal intensity | Pass |
| essv6298152 | 7 | SAMN00009100 | SNP array | Probe signal intensity | Pass |
| essv5721970 | 7 | SAMN00009102 | SNP array | Probe signal intensity | Pass |
| essv5793304 | 7 | SAMN00009106 | SNP array | Probe signal intensity | Pass |
| essv5567806 | 7 | SAMN00009126 | SNP array | Probe signal intensity | Pass |
| essv6005373 | 7 | SAMN00009145 | SNP array | Probe signal intensity | Pass |
| essv6063783 | 7 | SAMN00009159 | SNP array | Probe signal intensity | Pass |
| essv6338111 | 7 | SAMN00009175 | SNP array | Probe signal intensity | Pass |
| essv6575232 | 7 | SAMN00009189 | SNP array | Probe signal intensity | Pass |
| essv6158078 | 7 | SAMN00009193 | SNP array | Probe signal intensity | Pass |
| essv6262729 | 7 | SAMN00009250 | SNP array | Probe signal intensity | Pass |
| essv6485391 | 7 | SAMN00016969 | SNP array | Probe signal intensity | Pass |
| essv6076609 | 7 | SAMN00016976 | SNP array | Probe signal intensity | Pass |
| essv6475698 | 7 | SAMN00016981 | SNP array | Probe signal intensity | Pass |
| essv5822121 | 7 | SAMN00797025 | SNP array | Probe signal intensity | Pass |
| essv5795293 | 7 | SAMN00797419 | SNP array | Probe signal intensity | Pass |
| essv5963200 | 7 | SAMN00800258 | SNP array | Probe signal intensity | Pass |
| essv5461015 | 7 | SAMN00800266 | SNP array | Probe signal intensity | Pass |
| essv5885106 | 7 | SAMN00801049 | SNP array | Probe signal intensity | Pass |