esv2674235
- 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:19,248
- 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: 528 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 541 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2674235 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| esv2674235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5425134 | deletion | SAMN00006375 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv5473140 | deletion | SAMN00006400 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,503 |
| essv5482134 | deletion | SAMN00016966 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,024 |
| essv5504647 | deletion | SAMN00006418 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 457 |
| essv5508889 | deletion | SAMN00016980 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 985 |
| essv5533976 | deletion | SAMN00006395 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,531 |
| essv5543909 | deletion | SAMN00009096 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,682 |
| essv5543978 | deletion | SAMN00006371 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,084 |
| essv5571425 | deletion | SAMN00006396 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv5580695 | deletion | SAMN00006377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,610 |
| essv5603906 | deletion | SAMN00006393 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,630 |
| essv5610188 | deletion | SAMN00006423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,641 |
| essv5620814 | deletion | SAMN00009098 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,693 |
| essv5620954 | deletion | SAMN00009102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,564 |
| essv5679144 | deletion | SAMN00006394 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,648 |
| essv5682923 | deletion | SAMN00009108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,494 |
| essv5696587 | deletion | SAMN00009107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,588 |
| essv5770493 | deletion | SAMN00006398 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,645 |
| essv5775889 | deletion | SAMN00016981 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 897 |
| essv5784679 | deletion | SAMN00006397 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,554 |
| essv5851910 | deletion | SAMN00006384 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,564 |
| essv5868830 | deletion | SAMN00016979 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 937 |
| essv5895253 | deletion | SAMN00006416 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,037 |
| essv5919200 | deletion | SAMN00016976 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,192 |
| essv5951219 | deletion | SAMN00006408 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,044 |
| essv5961921 | deletion | SAMN00006392 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,673 |
| essv5973164 | deletion | SAMN00016967 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,067 |
| essv5986052 | deletion | SAMN00006417 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 979 |
| essv6026957 | deletion | SAMN00006388 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,343 |
| essv6039728 | deletion | SAMN00006383 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,723 |
| essv6087122 | deletion | SAMN00006378 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 972 |
| essv6113806 | deletion | SAMN00016969 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,131 |
| essv6132911 | deletion | SAMN00009093 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,449 |
| essv6133861 | deletion | SAMN00009105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,619 |
| essv6136316 | deletion | SAMN00016974 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,135 |
| essv6149438 | deletion | SAMN00009109 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
| essv6162762 | deletion | SAMN00009104 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,697 |
| essv6189936 | deletion | SAMN00006405 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv6191146 | deletion | SAMN00006399 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,498 |
| essv6195353 | deletion | SAMN00006385 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,703 |
| essv6199071 | deletion | SAMN00016975 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,127 |
| essv6200215 | deletion | SAMN00006390 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv6250822 | deletion | SAMN00006373 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,196 |
| essv6261972 | deletion | SAMN00009094 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
| essv6327158 | deletion | SAMN00009101 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
| essv6339800 | deletion | SAMN00016972 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,041 |
| essv6343255 | deletion | SAMN00009095 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
| essv6344684 | deletion | SAMN00006382 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,010 |
| essv6346333 | deletion | SAMN00006370 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 948 |
| essv6379968 | deletion | SAMN00009103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,716 |
| essv6390593 | deletion | SAMN00006386 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,723 |
| essv6395369 | deletion | SAMN00016978 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,186 |
| essv6416225 | deletion | SAMN00009099 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,776 |
| essv6441957 | deletion | SAMN00009111 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,567 |
| essv6448231 | deletion | SAMN00006387 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,741 |
| essv6461385 | deletion | SAMN00016971 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,152 |
| essv6468973 | deletion | SAMN00006412 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,187 |
| essv6478962 | deletion | SAMN00006376 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,157 |
| essv6481945 | deletion | SAMN00009097 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv6495842 | deletion | SAMN00006372 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,554 |
| essv6496709 | deletion | SAMN00006389 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,662 |
| essv6525238 | deletion | SAMN00006425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,062 |
| essv6529171 | deletion | SAMN00009106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,631 |
| essv6530356 | deletion | SAMN00006421 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
| essv6538778 | deletion | SAMN00016965 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 982 |
| essv6564860 | deletion | SAMN00006381 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 940 |
| essv6591046 | deletion | SAMN00009100 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,675 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5425134 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5473140 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5482134 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5504647 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5508889 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5533976 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5543909 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5543978 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5571425 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5580695 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5603906 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5610188 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5620814 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5620954 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5679144 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5682923 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5696587 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5770493 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5775889 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5784679 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5851910 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5868830 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5895253 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5919200 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5951219 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5961921 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5973164 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5986052 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6026957 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6039728 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6087122 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6113806 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6132911 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6133861 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6136316 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6149438 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6162762 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6189936 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6191146 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6195353 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6199071 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6200215 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6250822 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6261972 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6327158 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6339800 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6343255 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6344684 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6346333 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6379968 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6390593 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6395369 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6416225 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6441957 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6448231 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6461385 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6468973 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6478962 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6481945 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6495842 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6496709 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6525238 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6529171 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6530356 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6538778 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6564860 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv6591046 | Remapped | Perfect | NC_000002.12:g.(97 523282_97523653)_( 97542159_97542529) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,523,282 | 97,523,653 | 97,542,159 | 97,542,529 |
| essv5425134 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5473140 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5482134 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5504647 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5508889 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5533976 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5543909 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5543978 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5571425 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5580695 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5603906 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5610188 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5620814 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5620954 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5679144 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5682923 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5696587 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5770493 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5775889 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5784679 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5851910 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5868830 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5895253 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5919200 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5951219 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5961921 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5973164 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv5986052 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv6026957 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv6039728 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv6087122 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv6113806 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 | ||
| essv6132911 | Submitted genomic | NC_000002.11:g.(98 139745_98140116)_( 98158622_98158992) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,139,745 | 98,140,116 | 98,158,622 | 98,158,992 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6346333 | 7 | SAMN00006370 | SNP array | Probe signal intensity | Pass |
| essv5543978 | 7 | SAMN00006371 | SNP array | Probe signal intensity | Pass |
| essv6495842 | 7 | SAMN00006372 | SNP array | Probe signal intensity | Pass |
| essv6250822 | 7 | SAMN00006373 | SNP array | Probe signal intensity | Pass |
| essv5425134 | 7 | SAMN00006375 | SNP array | Probe signal intensity | Pass |
| essv6478962 | 7 | SAMN00006376 | SNP array | Probe signal intensity | Pass |
| essv5580695 | 7 | SAMN00006377 | SNP array | Probe signal intensity | Pass |
| essv6087122 | 7 | SAMN00006378 | SNP array | Probe signal intensity | Pass |
| essv6564860 | 7 | SAMN00006381 | SNP array | Probe signal intensity | Pass |
| essv6344684 | 7 | SAMN00006382 | SNP array | Probe signal intensity | Pass |
| essv6039728 | 7 | SAMN00006383 | SNP array | Probe signal intensity | Pass |
| essv5851910 | 7 | SAMN00006384 | SNP array | Probe signal intensity | Pass |
| essv6195353 | 7 | SAMN00006385 | SNP array | Probe signal intensity | Pass |
| essv6390593 | 7 | SAMN00006386 | SNP array | Probe signal intensity | Pass |
| essv6448231 | 7 | SAMN00006387 | SNP array | Probe signal intensity | Pass |
| essv6026957 | 7 | SAMN00006388 | SNP array | Probe signal intensity | Pass |
| essv6496709 | 7 | SAMN00006389 | SNP array | Probe signal intensity | Pass |
| essv6200215 | 7 | SAMN00006390 | SNP array | Probe signal intensity | Pass |
| essv5961921 | 7 | SAMN00006392 | SNP array | Probe signal intensity | Pass |
| essv5603906 | 7 | SAMN00006393 | SNP array | Probe signal intensity | Pass |
| essv5679144 | 7 | SAMN00006394 | SNP array | Probe signal intensity | Pass |
| essv5533976 | 7 | SAMN00006395 | SNP array | Probe signal intensity | Pass |
| essv5571425 | 7 | SAMN00006396 | SNP array | Probe signal intensity | Pass |
| essv5784679 | 7 | SAMN00006397 | SNP array | Probe signal intensity | Pass |
| essv5770493 | 7 | SAMN00006398 | SNP array | Probe signal intensity | Pass |
| essv6191146 | 7 | SAMN00006399 | SNP array | Probe signal intensity | Pass |
| essv5473140 | 7 | SAMN00006400 | SNP array | Probe signal intensity | Pass |
| essv6189936 | 7 | SAMN00006405 | SNP array | Probe signal intensity | Pass |
| essv5951219 | 7 | SAMN00006408 | SNP array | Probe signal intensity | Pass |
| essv6468973 | 7 | SAMN00006412 | SNP array | Probe signal intensity | Pass |
| essv5895253 | 7 | SAMN00006416 | SNP array | Probe signal intensity | Pass |
| essv5986052 | 7 | SAMN00006417 | SNP array | Probe signal intensity | Pass |
| essv5504647 | 7 | SAMN00006418 | SNP array | Probe signal intensity | Pass |
| essv6530356 | 7 | SAMN00006421 | SNP array | Probe signal intensity | Pass |
| essv5610188 | 7 | SAMN00006423 | SNP array | Probe signal intensity | Pass |
| essv6525238 | 7 | SAMN00006425 | SNP array | Probe signal intensity | Pass |
| essv6132911 | 7 | SAMN00009093 | SNP array | Probe signal intensity | Pass |
| essv6261972 | 7 | SAMN00009094 | SNP array | Probe signal intensity | Pass |
| essv6343255 | 7 | SAMN00009095 | SNP array | Probe signal intensity | Pass |
| essv5543909 | 7 | SAMN00009096 | SNP array | Probe signal intensity | Pass |
| essv6481945 | 7 | SAMN00009097 | SNP array | Probe signal intensity | Pass |
| essv5620814 | 7 | SAMN00009098 | SNP array | Probe signal intensity | Pass |
| essv6416225 | 7 | SAMN00009099 | SNP array | Probe signal intensity | Pass |
| essv6591046 | 7 | SAMN00009100 | SNP array | Probe signal intensity | Pass |
| essv6327158 | 7 | SAMN00009101 | SNP array | Probe signal intensity | Pass |
| essv5620954 | 7 | SAMN00009102 | SNP array | Probe signal intensity | Pass |
| essv6379968 | 7 | SAMN00009103 | SNP array | Probe signal intensity | Pass |
| essv6162762 | 7 | SAMN00009104 | SNP array | Probe signal intensity | Pass |
| essv6133861 | 7 | SAMN00009105 | SNP array | Probe signal intensity | Pass |
| essv6529171 | 7 | SAMN00009106 | SNP array | Probe signal intensity | Pass |
| essv5696587 | 7 | SAMN00009107 | SNP array | Probe signal intensity | Pass |
| essv5682923 | 7 | SAMN00009108 | SNP array | Probe signal intensity | Pass |
| essv6149438 | 7 | SAMN00009109 | SNP array | Probe signal intensity | Pass |
| essv6441957 | 7 | SAMN00009111 | SNP array | Probe signal intensity | Pass |
| essv6538778 | 7 | SAMN00016965 | SNP array | Probe signal intensity | Pass |
| essv5482134 | 7 | SAMN00016966 | SNP array | Probe signal intensity | Pass |
| essv5973164 | 7 | SAMN00016967 | SNP array | Probe signal intensity | Pass |
| essv6113806 | 7 | SAMN00016969 | SNP array | Probe signal intensity | Pass |
| essv6461385 | 7 | SAMN00016971 | SNP array | Probe signal intensity | Pass |
| essv6339800 | 7 | SAMN00016972 | SNP array | Probe signal intensity | Pass |
| essv6136316 | 7 | SAMN00016974 | SNP array | Probe signal intensity | Pass |
| essv6199071 | 7 | SAMN00016975 | SNP array | Probe signal intensity | Pass |
| essv5919200 | 7 | SAMN00016976 | SNP array | Probe signal intensity | Pass |
| essv6395369 | 7 | SAMN00016978 | SNP array | Probe signal intensity | Pass |
| essv5868830 | 7 | SAMN00016979 | SNP array | Probe signal intensity | Pass |
| essv5508889 | 7 | SAMN00016980 | SNP array | Probe signal intensity | Pass |
| essv5775889 | 7 | SAMN00016981 | SNP array | Probe signal intensity | Pass |