esv2675135
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:79
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,751
- 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: 444 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 443 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2675135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| esv2675135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5449448 | deletion | SAMN00007813 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,240 |
| essv5469475 | deletion | SAMN00000427 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,692 |
| essv5495577 | deletion | SAMN00006366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
| essv5495668 | deletion | SAMN00001257 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 796 |
| essv5501026 | deletion | SAMN00001314 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 746 |
| essv5509970 | deletion | SAMN00014347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv5541711 | deletion | SAMN00001602 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,302 |
| essv5560175 | deletion | SAMN00006507 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
| essv5560198 | deletion | SAMN00007798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,207 |
| essv5567178 | deletion | SAMN00004644 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 930 |
| essv5570215 | deletion | SAMN00801418 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 808 |
| essv5572308 | deletion | SAMN00006454 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,600 |
| essv5599877 | deletion | SAMN00797404 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,239 |
| essv5613226 | deletion | SAMN00006579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,224 |
| essv5634181 | deletion | SAMN00006475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,638 |
| essv5663937 | deletion | SAMN00007823 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
| essv5696163 | deletion | SAMN00007746 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,178 |
| essv5706143 | deletion | SAMN00006583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,292 |
| essv5718270 | deletion | SAMN00009119 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,790 |
| essv5723422 | deletion | SAMN00006469 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,602 |
| essv5729749 | deletion | SAMN00006368 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,057 |
| essv5752310 | deletion | SAMN00009190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,097 |
| essv5767476 | deletion | SAMN00009125 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
| essv5794218 | deletion | SAMN00004669 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,071 |
| essv5823169 | deletion | SAMN00006574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,770 |
| essv5855149 | deletion | SAMN00004664 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,019 |
| essv5880783 | deletion | SAMN00007729 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,132 |
| essv5881305 | deletion | SAMN00001621 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,225 |
| essv5911432 | deletion | SAMN00004651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv5945941 | deletion | SAMN00006360 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv5955514 | deletion | SAMN00007713 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 994 |
| essv5964699 | deletion | SAMN00007747 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,108 |
| essv5967282 | deletion | SAMN00014314 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,733 |
| essv5968557 | deletion | SAMN00006370 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 948 |
| essv5973005 | deletion | SAMN00801738 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 969 |
| essv5979714 | deletion | SAMN00006599 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,583 |
| essv5984148 | deletion | SAMN00006598 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,574 |
| essv5993620 | deletion | SAMN00007722 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,201 |
| essv6011529 | deletion | SAMN00004661 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,025 |
| essv6013258 | deletion | SAMN00009136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,371 |
| essv6021024 | deletion | SAMN00007726 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,102 |
| essv6052115 | deletion | SAMN00001622 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,501 |
| essv6068001 | deletion | SAMN00014356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 777 |
| essv6078566 | deletion | SAMN00004675 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,496 |
| essv6081399 | deletion | SAMN00006582 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,138 |
| essv6085712 | deletion | SAMN00000425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
| essv6094270 | deletion | SAMN00007755 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,123 |
| essv6103222 | deletion | SAMN00007749 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,120 |
| essv6121640 | deletion | SAMN00009108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,494 |
| essv6133158 | deletion | SAMN00006543 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv6155212 | deletion | SAMN00006589 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,904 |
| essv6179090 | deletion | SAMN00001552 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,001 |
| essv6187745 | deletion | SAMN00009123 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,809 |
| essv6191085 | deletion | SAMN00006349 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,732 |
| essv6210589 | deletion | SAMN00007806 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
| essv6226144 | deletion | SAMN00001249 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 848 |
| essv6249724 | deletion | SAMN00801126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,185 |
| essv6256662 | deletion | SAMN00006352 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
| essv6264089 | deletion | SAMN00006374 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 910 |
| essv6322114 | deletion | SAMN00800973 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 975 |
| essv6343369 | deletion | SAMN00000445 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,439 |
| essv6344528 | deletion | SAMN00001238 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 882 |
| essv6381878 | deletion | SAMN00001288 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 897 |
| essv6396527 | deletion | SAMN00014327 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,651 |
| essv6405152 | deletion | SAMN00000455 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,599 |
| essv6412025 | deletion | SAMN00001546 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,146 |
| essv6439920 | deletion | SAMN00006460 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,601 |
| essv6456337 | deletion | SAMN00006342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,300 |
| essv6479110 | deletion | SAMN00006511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,159 |
| essv6483677 | deletion | SAMN00797419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,200 |
| essv6485588 | deletion | SAMN00009092 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv6495699 | deletion | SAMN00000456 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,333 |
| essv6500494 | deletion | SAMN00006401 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,672 |
| essv6537246 | deletion | SAMN00000413 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 864 |
| essv6540324 | deletion | SAMN00001307 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 922 |
| essv6558354 | deletion | SAMN00014320 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,333 |
| essv6573101 | deletion | SAMN00007732 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
| essv6582823 | deletion | SAMN00006593 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,587 |
| essv6597458 | deletion | SAMN00801031 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5449448 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5469475 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5495577 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5495668 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5501026 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5509970 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5541711 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5560175 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5560198 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5567178 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5570215 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5572308 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5599877 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5613226 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5634181 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5663937 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5696163 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5706143 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5718270 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5723422 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5729749 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5752310 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5767476 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5794218 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5823169 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5855149 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5880783 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5881305 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5911432 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5945941 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5955514 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5964699 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5967282 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5968557 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5973005 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5979714 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5984148 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5993620 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6011529 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6013258 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6021024 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6052115 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6068001 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6078566 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6081399 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6085712 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6094270 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6103222 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6121640 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6133158 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6155212 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6179090 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6187745 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6191085 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6210589 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6226144 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6249724 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6256662 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6264089 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6322114 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6343369 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6344528 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6381878 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6396527 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6405152 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6412025 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6439920 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6456337 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6479110 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6483677 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6485588 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6495699 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6500494 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6537246 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6540324 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6558354 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6573101 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6582823 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv6597458 | Remapped | Perfect | NC_000003.12:g.529 93132_53004882del4 0 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,993,132 | 53,004,882 |
| essv5449448 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5469475 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5495577 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5495668 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5501026 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5509970 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5541711 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5560175 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5560198 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5567178 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5570215 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5572308 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5599877 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5613226 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5634181 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5663937 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5696163 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5706143 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5718270 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5723422 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 | ||
| essv5729749 | Submitted genomic | NC_000003.11:g.530 27148_53038898del4 0 | GRCh37 (hg19) | NC_000003.11 | Chr3 | 53,027,148 | 53,038,898 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6537246 | 7 | SAMN00000413 | SNP array | Probe signal intensity | Pass |
| essv6085712 | 7 | SAMN00000425 | SNP array | Probe signal intensity | Pass |
| essv5469475 | 7 | SAMN00000427 | SNP array | Probe signal intensity | Pass |
| essv6343369 | 7 | SAMN00000445 | SNP array | Probe signal intensity | Pass |
| essv6405152 | 7 | SAMN00000455 | SNP array | Probe signal intensity | Pass |
| essv6495699 | 7 | SAMN00000456 | SNP array | Probe signal intensity | Pass |
| essv6344528 | 7 | SAMN00001238 | SNP array | Probe signal intensity | Pass |
| essv6226144 | 7 | SAMN00001249 | SNP array | Probe signal intensity | Pass |
| essv5495668 | 7 | SAMN00001257 | SNP array | Probe signal intensity | Pass |
| essv6381878 | 7 | SAMN00001288 | SNP array | Probe signal intensity | Pass |
| essv6540324 | 7 | SAMN00001307 | SNP array | Probe signal intensity | Pass |
| essv5501026 | 7 | SAMN00001314 | SNP array | Probe signal intensity | Pass |
| essv6412025 | 7 | SAMN00001546 | SNP array | Probe signal intensity | Pass |
| essv6179090 | 7 | SAMN00001552 | SNP array | Probe signal intensity | Pass |
| essv5541711 | 7 | SAMN00001602 | SNP array | Probe signal intensity | Pass |
| essv5881305 | 7 | SAMN00001621 | SNP array | Probe signal intensity | Pass |
| essv6052115 | 7 | SAMN00001622 | SNP array | Probe signal intensity | Pass |
| essv5567178 | 7 | SAMN00004644 | SNP array | Probe signal intensity | Pass |
| essv5911432 | 7 | SAMN00004651 | SNP array | Probe signal intensity | Pass |
| essv6011529 | 7 | SAMN00004661 | SNP array | Probe signal intensity | Pass |
| essv5855149 | 7 | SAMN00004664 | SNP array | Probe signal intensity | Pass |
| essv5794218 | 7 | SAMN00004669 | SNP array | Probe signal intensity | Pass |
| essv6078566 | 7 | SAMN00004675 | SNP array | Probe signal intensity | Pass |
| essv6456337 | 7 | SAMN00006342 | SNP array | Probe signal intensity | Pass |
| essv6191085 | 7 | SAMN00006349 | SNP array | Probe signal intensity | Pass |
| essv6256662 | 7 | SAMN00006352 | SNP array | Probe signal intensity | Pass |
| essv5945941 | 7 | SAMN00006360 | SNP array | Probe signal intensity | Pass |
| essv5495577 | 7 | SAMN00006366 | SNP array | Probe signal intensity | Pass |
| essv5729749 | 7 | SAMN00006368 | SNP array | Probe signal intensity | Pass |
| essv5968557 | 7 | SAMN00006370 | SNP array | Probe signal intensity | Pass |
| essv6264089 | 7 | SAMN00006374 | SNP array | Probe signal intensity | Pass |
| essv6500494 | 7 | SAMN00006401 | SNP array | Probe signal intensity | Pass |
| essv5572308 | 7 | SAMN00006454 | SNP array | Probe signal intensity | Pass |
| essv6439920 | 7 | SAMN00006460 | SNP array | Probe signal intensity | Pass |
| essv5723422 | 7 | SAMN00006469 | SNP array | Probe signal intensity | Pass |
| essv5634181 | 7 | SAMN00006475 | SNP array | Probe signal intensity | Pass |
| essv5560175 | 7 | SAMN00006507 | SNP array | Probe signal intensity | Pass |
| essv6479110 | 7 | SAMN00006511 | SNP array | Probe signal intensity | Pass |
| essv6133158 | 7 | SAMN00006543 | SNP array | Probe signal intensity | Pass |
| essv5823169 | 7 | SAMN00006574 | SNP array | Probe signal intensity | Pass |
| essv5613226 | 7 | SAMN00006579 | SNP array | Probe signal intensity | Pass |
| essv6081399 | 7 | SAMN00006582 | SNP array | Probe signal intensity | Pass |
| essv5706143 | 7 | SAMN00006583 | SNP array | Probe signal intensity | Pass |
| essv6155212 | 7 | SAMN00006589 | SNP array | Probe signal intensity | Pass |
| essv6582823 | 7 | SAMN00006593 | SNP array | Probe signal intensity | Pass |
| essv5984148 | 7 | SAMN00006598 | SNP array | Probe signal intensity | Pass |
| essv5979714 | 7 | SAMN00006599 | SNP array | Probe signal intensity | Pass |
| essv5955514 | 7 | SAMN00007713 | SNP array | Probe signal intensity | Pass |
| essv5993620 | 7 | SAMN00007722 | SNP array | Probe signal intensity | Pass |
| essv6021024 | 7 | SAMN00007726 | SNP array | Probe signal intensity | Pass |
| essv5880783 | 7 | SAMN00007729 | SNP array | Probe signal intensity | Pass |
| essv6573101 | 7 | SAMN00007732 | SNP array | Probe signal intensity | Pass |
| essv5696163 | 7 | SAMN00007746 | SNP array | Probe signal intensity | Pass |
| essv5964699 | 7 | SAMN00007747 | SNP array | Probe signal intensity | Pass |
| essv6103222 | 7 | SAMN00007749 | SNP array | Probe signal intensity | Pass |
| essv6094270 | 7 | SAMN00007755 | SNP array | Probe signal intensity | Pass |
| essv5560198 | 7 | SAMN00007798 | SNP array | Probe signal intensity | Pass |
| essv6210589 | 7 | SAMN00007806 | SNP array | Probe signal intensity | Pass |
| essv5449448 | 7 | SAMN00007813 | SNP array | Probe signal intensity | Pass |
| essv5663937 | 7 | SAMN00007823 | SNP array | Probe signal intensity | Pass |
| essv6485588 | 7 | SAMN00009092 | SNP array | Probe signal intensity | Pass |
| essv6121640 | 7 | SAMN00009108 | SNP array | Probe signal intensity | Pass |
| essv5718270 | 7 | SAMN00009119 | SNP array | Probe signal intensity | Pass |
| essv6187745 | 7 | SAMN00009123 | SNP array | Probe signal intensity | Pass |
| essv5767476 | 7 | SAMN00009125 | SNP array | Probe signal intensity | Pass |
| essv6013258 | 7 | SAMN00009136 | SNP array | Probe signal intensity | Pass |
| essv5752310 | 7 | SAMN00009190 | SNP array | Probe signal intensity | Pass |
| essv5967282 | 7 | SAMN00014314 | SNP array | Probe signal intensity | Pass |
| essv6558354 | 7 | SAMN00014320 | SNP array | Probe signal intensity | Pass |
| essv6396527 | 7 | SAMN00014327 | SNP array | Probe signal intensity | Pass |
| essv5509970 | 7 | SAMN00014347 | SNP array | Probe signal intensity | Pass |
| essv6068001 | 7 | SAMN00014356 | SNP array | Probe signal intensity | Pass |
| essv5599877 | 7 | SAMN00797404 | SNP array | Probe signal intensity | Pass |
| essv6483677 | 7 | SAMN00797419 | SNP array | Probe signal intensity | Pass |
| essv6322114 | 7 | SAMN00800973 | SNP array | Probe signal intensity | Pass |
| essv6597458 | 7 | SAMN00801031 | SNP array | Probe signal intensity | Pass |
| essv6249724 | 7 | SAMN00801126 | SNP array | Probe signal intensity | Pass |
| essv5570215 | 7 | SAMN00801418 | SNP array | Probe signal intensity | Pass |
| essv5973005 | 7 | SAMN00801738 | SNP array | Probe signal intensity | Pass |