esv2661214
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:77
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,248
- 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: 188 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2661214 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
esv2661214 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5418699 | deletion | SAMN00001151 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,590 |
essv5419169 | deletion | SAMN00001137 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,647 |
essv5436802 | deletion | SAMN00001172 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,516 |
essv5439871 | deletion | SAMN00001156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,716 |
essv5451310 | deletion | SAMN00001132 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,614 |
essv5459702 | deletion | SAMN00001134 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,508 |
essv5475632 | deletion | SAMN00001114 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 801 |
essv5520806 | deletion | SAMN00001159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
essv5543100 | deletion | SAMN00001126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
essv5548601 | deletion | SAMN00001165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,213 |
essv5559395 | deletion | SAMN00001127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,924 |
essv5582238 | deletion | SAMN00001119 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 912 |
essv5616865 | deletion | SAMN00001122 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,437 |
essv5619639 | deletion | SAMN00001101 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
essv5642537 | deletion | SAMN00001109 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 966 |
essv5646432 | deletion | SAMN00001129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,603 |
essv5657379 | deletion | SAMN00001173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,274 |
essv5663190 | deletion | SAMN00001142 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,523 |
essv5669248 | deletion | SAMN00001128 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,720 |
essv5696405 | deletion | SAMN00001191 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,461 |
essv5705762 | deletion | SAMN00001176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
essv5780328 | deletion | SAMN00001117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,366 |
essv5795481 | deletion | SAMN00001136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
essv5809754 | deletion | SAMN00001140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,625 |
essv5819707 | deletion | SAMN00001177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,531 |
essv5846568 | deletion | SAMN00001108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 901 |
essv5859176 | deletion | SAMN00001149 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,599 |
essv5883054 | deletion | SAMN00001150 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
essv5894215 | deletion | SAMN00001162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,432 |
essv5896001 | deletion | SAMN00001139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,535 |
essv5917878 | deletion | SAMN00001175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,327 |
essv5940682 | deletion | SAMN00001178 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,252 |
essv5996272 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
essv5997331 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
essv5997517 | deletion | SAMN00001193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,179 |
essv6002051 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
essv6006009 | deletion | SAMN00001113 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 815 |
essv6007502 | deletion | SAMN00001133 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
essv6018426 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
essv6023704 | deletion | SAMN00001116 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 990 |
essv6038100 | deletion | SAMN00001194 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
essv6063293 | deletion | SAMN00001148 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
essv6070205 | deletion | SAMN00001185 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,819 |
essv6074939 | deletion | SAMN00001166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
essv6078943 | deletion | SAMN00001131 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
essv6103502 | deletion | SAMN00001184 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,618 |
essv6165422 | deletion | SAMN00001144 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,691 |
essv6211634 | deletion | SAMN00001153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,528 |
essv6216322 | deletion | SAMN00001163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,404 |
essv6230580 | deletion | SAMN00001157 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,813 |
essv6248997 | deletion | SAMN00001146 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,412 |
essv6253269 | deletion | SAMN00001182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
essv6254777 | deletion | SAMN00001183 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,354 |
essv6281258 | deletion | SAMN00001102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,259 |
essv6291828 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
essv6295624 | deletion | SAMN00001107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
essv6311317 | deletion | SAMN00001192 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,334 |
essv6314052 | deletion | SAMN00001147 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,637 |
essv6368693 | deletion | SAMN00001171 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
essv6375590 | deletion | SAMN00001160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
essv6379200 | deletion | SAMN00001111 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 811 |
essv6388692 | deletion | SAMN00001130 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,544 |
essv6393334 | deletion | SAMN00001125 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,568 |
essv6406422 | deletion | SAMN00001118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
essv6425203 | deletion | SAMN00001115 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 840 |
essv6444432 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
essv6464521 | deletion | SAMN00001168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
essv6494857 | deletion | SAMN00001152 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
essv6521415 | deletion | SAMN00001105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 859 |
essv6527723 | deletion | SAMN00001181 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,016 |
essv6536902 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
essv6539104 | deletion | SAMN00001189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,771 |
essv6545522 | deletion | SAMN00001158 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,358 |
essv6546075 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
essv6553347 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
essv6555127 | deletion | SAMN00001141 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,524 |
essv6595374 | deletion | SAMN00001106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 953 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5418699 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5419169 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5436802 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5439871 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5451310 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5459702 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5475632 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5520806 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5543100 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5548601 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5559395 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5582238 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5616865 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5619639 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5642537 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5646432 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5657379 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5663190 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5669248 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5696405 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5705762 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5780328 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5795481 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5809754 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5819707 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5846568 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5859176 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5883054 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5894215 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5896001 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5917878 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5940682 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5996272 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5997331 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5997517 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6002051 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6006009 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6007502 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6018426 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6023704 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6038100 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6063293 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6070205 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6074939 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6078943 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6103502 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6165422 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6211634 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6216322 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6230580 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6248997 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6253269 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6254777 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6281258 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6291828 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6295624 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6311317 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6314052 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6368693 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6375590 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6379200 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6388692 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6393334 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6406422 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6425203 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6444432 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6464521 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6494857 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6521415 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6527723 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6536902 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6539104 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6545522 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6546075 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6553347 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6555127 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv6595374 | Remapped | Perfect | NC_000012.12:g.(13 2940359_132940730) _(132950236_132950 606)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,940,359 | 132,940,730 | 132,950,236 | 132,950,606 |
essv5418699 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5419169 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5436802 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5439871 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5451310 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5459702 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5475632 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5520806 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5543100 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5548601 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5559395 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5582238 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5616865 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5619639 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5642537 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5646432 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5657379 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5663190 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5669248 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5696405 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5705762 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5780328 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 | ||
essv5795481 | Submitted genomic | NC_000012.11:g.(13 3516945_133517316) _(133526822_133527 192)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,516,945 | 133,517,316 | 133,526,822 | 133,527,192 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5619639 | 7 | SAMN00001101 | SNP array | Probe signal intensity | Pass |
essv6281258 | 7 | SAMN00001102 | SNP array | Probe signal intensity | Pass |
essv6521415 | 7 | SAMN00001105 | SNP array | Probe signal intensity | Pass |
essv6595374 | 7 | SAMN00001106 | SNP array | Probe signal intensity | Pass |
essv6295624 | 7 | SAMN00001107 | SNP array | Probe signal intensity | Pass |
essv5846568 | 7 | SAMN00001108 | SNP array | Probe signal intensity | Pass |
essv5642537 | 7 | SAMN00001109 | SNP array | Probe signal intensity | Pass |
essv6379200 | 7 | SAMN00001111 | SNP array | Probe signal intensity | Pass |
essv6006009 | 7 | SAMN00001113 | SNP array | Probe signal intensity | Pass |
essv5475632 | 7 | SAMN00001114 | SNP array | Probe signal intensity | Pass |
essv6425203 | 7 | SAMN00001115 | SNP array | Probe signal intensity | Pass |
essv6023704 | 7 | SAMN00001116 | SNP array | Probe signal intensity | Pass |
essv5780328 | 7 | SAMN00001117 | SNP array | Probe signal intensity | Pass |
essv6406422 | 7 | SAMN00001118 | SNP array | Probe signal intensity | Pass |
essv5582238 | 7 | SAMN00001119 | SNP array | Probe signal intensity | Pass |
essv5997331 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
essv5996272 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
essv5616865 | 7 | SAMN00001122 | SNP array | Probe signal intensity | Pass |
essv6393334 | 7 | SAMN00001125 | SNP array | Probe signal intensity | Pass |
essv5543100 | 7 | SAMN00001126 | SNP array | Probe signal intensity | Pass |
essv5559395 | 7 | SAMN00001127 | SNP array | Probe signal intensity | Pass |
essv5669248 | 7 | SAMN00001128 | SNP array | Probe signal intensity | Pass |
essv5646432 | 7 | SAMN00001129 | SNP array | Probe signal intensity | Pass |
essv6388692 | 7 | SAMN00001130 | SNP array | Probe signal intensity | Pass |
essv6078943 | 7 | SAMN00001131 | SNP array | Probe signal intensity | Pass |
essv5451310 | 7 | SAMN00001132 | SNP array | Probe signal intensity | Pass |
essv6007502 | 7 | SAMN00001133 | SNP array | Probe signal intensity | Pass |
essv5459702 | 7 | SAMN00001134 | SNP array | Probe signal intensity | Pass |
essv5795481 | 7 | SAMN00001136 | SNP array | Probe signal intensity | Pass |
essv5419169 | 7 | SAMN00001137 | SNP array | Probe signal intensity | Pass |
essv6444432 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
essv5896001 | 7 | SAMN00001139 | SNP array | Probe signal intensity | Pass |
essv5809754 | 7 | SAMN00001140 | SNP array | Probe signal intensity | Pass |
essv6555127 | 7 | SAMN00001141 | SNP array | Probe signal intensity | Pass |
essv5663190 | 7 | SAMN00001142 | SNP array | Probe signal intensity | Pass |
essv6002051 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
essv6165422 | 7 | SAMN00001144 | SNP array | Probe signal intensity | Pass |
essv6248997 | 7 | SAMN00001146 | SNP array | Probe signal intensity | Pass |
essv6314052 | 7 | SAMN00001147 | SNP array | Probe signal intensity | Pass |
essv6063293 | 7 | SAMN00001148 | SNP array | Probe signal intensity | Pass |
essv5859176 | 7 | SAMN00001149 | SNP array | Probe signal intensity | Pass |
essv5883054 | 7 | SAMN00001150 | SNP array | Probe signal intensity | Pass |
essv5418699 | 7 | SAMN00001151 | SNP array | Probe signal intensity | Pass |
essv6494857 | 7 | SAMN00001152 | SNP array | Probe signal intensity | Pass |
essv6211634 | 7 | SAMN00001153 | SNP array | Probe signal intensity | Pass |
essv6546075 | 7 | SAMN00001155 | SNP array | Probe signal intensity | Pass |
essv5439871 | 7 | SAMN00001156 | SNP array | Probe signal intensity | Pass |
essv6230580 | 7 | SAMN00001157 | SNP array | Probe signal intensity | Pass |
essv6545522 | 7 | SAMN00001158 | SNP array | Probe signal intensity | Pass |
essv5520806 | 7 | SAMN00001159 | SNP array | Probe signal intensity | Pass |
essv6375590 | 7 | SAMN00001160 | SNP array | Probe signal intensity | Pass |
essv5894215 | 7 | SAMN00001162 | SNP array | Probe signal intensity | Pass |
essv6216322 | 7 | SAMN00001163 | SNP array | Probe signal intensity | Pass |
essv6553347 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
essv5548601 | 7 | SAMN00001165 | SNP array | Probe signal intensity | Pass |
essv6074939 | 7 | SAMN00001166 | SNP array | Probe signal intensity | Pass |
essv6464521 | 7 | SAMN00001168 | SNP array | Probe signal intensity | Pass |
essv6291828 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
essv6368693 | 7 | SAMN00001171 | SNP array | Probe signal intensity | Pass |
essv5436802 | 7 | SAMN00001172 | SNP array | Probe signal intensity | Pass |
essv5657379 | 7 | SAMN00001173 | SNP array | Probe signal intensity | Pass |
essv6536902 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
essv5917878 | 7 | SAMN00001175 | SNP array | Probe signal intensity | Pass |
essv5705762 | 7 | SAMN00001176 | SNP array | Probe signal intensity | Pass |
essv5819707 | 7 | SAMN00001177 | SNP array | Probe signal intensity | Pass |
essv5940682 | 7 | SAMN00001178 | SNP array | Probe signal intensity | Pass |
essv6018426 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
essv6527723 | 7 | SAMN00001181 | SNP array | Probe signal intensity | Pass |
essv6253269 | 7 | SAMN00001182 | SNP array | Probe signal intensity | Pass |
essv6254777 | 7 | SAMN00001183 | SNP array | Probe signal intensity | Pass |
essv6103502 | 7 | SAMN00001184 | SNP array | Probe signal intensity | Pass |
essv6070205 | 7 | SAMN00001185 | SNP array | Probe signal intensity | Pass |
essv6539104 | 7 | SAMN00001189 | SNP array | Probe signal intensity | Pass |
essv5696405 | 7 | SAMN00001191 | SNP array | Probe signal intensity | Pass |
essv6311317 | 7 | SAMN00001192 | SNP array | Probe signal intensity | Pass |
essv5997517 | 7 | SAMN00001193 | SNP array | Probe signal intensity | Pass |
essv6038100 | 7 | SAMN00001194 | SNP array | Probe signal intensity | Pass |