esv2663832
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:109
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,154
- 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: 170 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 36 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2663832 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
esv2663832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 118,579,966 | 118,591,119 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5397811 | deletion | SAMN00001192 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,334 |
essv5420868 | deletion | SAMN00006416 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,037 |
essv5423837 | deletion | SAMN00004655 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
essv5424315 | deletion | SAMN00006338 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,005 |
essv5429601 | deletion | SAMN00000539 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,072 |
essv5434173 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
essv5434634 | deletion | SAMN00001253 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 912 |
essv5458969 | deletion | SAMN00000452 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,154 |
essv5498185 | deletion | SAMN00006412 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,187 |
essv5502612 | deletion | SAMN00014312 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,381 |
essv5503027 | deletion | SAMN00004672 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 913 |
essv5528396 | deletion | SAMN00007726 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,102 |
essv5532726 | deletion | SAMN00009139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
essv5537932 | deletion | SAMN00006346 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
essv5543364 | deletion | SAMN00001029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,237 |
essv5549909 | deletion | SAMN00801352 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 906 |
essv5553598 | deletion | SAMN00007823 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
essv5554306 | deletion | SAMN00009153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,539 |
essv5562735 | deletion | SAMN00001163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,404 |
essv5595711 | deletion | SAMN00001312 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 781 |
essv5608383 | deletion | SAMN00016978 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,186 |
essv5626017 | deletion | SAMN00801485 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,032 |
essv5656359 | deletion | SAMN00009123 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,809 |
essv5658493 | deletion | SAMN00016981 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 897 |
essv5662636 | deletion | SAMN00006546 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
essv5674721 | deletion | SAMN00001036 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,348 |
essv5694257 | deletion | SAMN00006516 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
essv5694294 | deletion | SAMN00006351 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,048 |
essv5719035 | deletion | SAMN00001166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
essv5722460 | deletion | SAMN00007705 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,063 |
essv5739083 | deletion | SAMN00014345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,183 |
essv5753201 | deletion | SAMN00801420 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,042 |
essv5761417 | deletion | SAMN00006499 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,734 |
essv5774549 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
essv5775671 | deletion | SAMN00006531 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,141 |
essv5791028 | deletion | SAMN00004669 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,071 |
essv5809107 | deletion | SAMN00007747 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,108 |
essv5830942 | deletion | SAMN00000457 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,165 |
essv5835464 | deletion | SAMN00001168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
essv5838581 | deletion | SAMN00007817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,168 |
essv5844295 | deletion | SAMN00000922 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
essv5845379 | deletion | SAMN00006589 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,904 |
essv5871941 | deletion | SAMN00007738 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,656 |
essv5901578 | deletion | SAMN00000486 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,080 |
essv5916558 | deletion | SAMN00006340 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
essv5919380 | deletion | SAMN00007700 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,460 |
essv5930061 | deletion | SAMN00014350 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,216 |
essv5935496 | deletion | SAMN00007753 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,117 |
essv5937169 | deletion | SAMN00006593 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,587 |
essv5938177 | deletion | SAMN00007737 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
essv5945048 | deletion | SAMN00016977 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
essv5963097 | deletion | SAMN00009128 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,219 |
essv5966709 | deletion | SAMN00006522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,660 |
essv5972824 | deletion | SAMN00004696 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
essv6003736 | deletion | SAMN00007749 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,120 |
essv6004507 | deletion | SAMN00006345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,340 |
essv6014793 | deletion | SAMN00006385 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,703 |
essv6021570 | deletion | SAMN00001184 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,618 |
essv6035024 | deletion | SAMN00006820 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,352 |
essv6035695 | deletion | SAMN00004660 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,080 |
essv6045136 | deletion | SAMN00001305 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 955 |
essv6054537 | deletion | SAMN00007717 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,210 |
essv6067764 | deletion | SAMN00014317 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,665 |
essv6068505 | deletion | SAMN00009157 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,373 |
essv6069012 | deletion | SAMN00006596 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,607 |
essv6070094 | deletion | SAMN00000528 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
essv6080795 | deletion | SAMN00006354 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,150 |
essv6082878 | deletion | SAMN00006495 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,043 |
essv6096295 | deletion | SAMN00000386 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 945 |
essv6097793 | deletion | SAMN00007743 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,615 |
essv6112045 | deletion | SAMN00004637 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,578 |
essv6112329 | deletion | SAMN00006419 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,305 |
essv6117561 | deletion | SAMN00006580 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
essv6124962 | deletion | SAMN00006378 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 972 |
essv6130949 | deletion | SAMN00007725 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,143 |
essv6141011 | deletion | SAMN00004666 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
essv6162905 | deletion | SAMN00801422 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,289 |
essv6183418 | deletion | SAMN00006376 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,157 |
essv6215637 | deletion | SAMN00006382 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,010 |
essv6232195 | deletion | SAMN00007701 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,028 |
essv6246203 | deletion | SAMN00009111 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,567 |
essv6248994 | deletion | SAMN00009146 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,904 |
essv6249737 | deletion | SAMN00007722 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,201 |
essv6254993 | deletion | SAMN00006538 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
essv6270589 | deletion | SAMN00801650 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 903 |
essv6287700 | deletion | SAMN00014347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
essv6304225 | deletion | SAMN00007804 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,764 |
essv6306588 | deletion | SAMN00001032 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 996 |
essv6306637 | deletion | SAMN00000441 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,152 |
essv6307976 | deletion | SAMN00006366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
essv6309029 | deletion | SAMN00007732 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
essv6318249 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
essv6327704 | deletion | SAMN00000519 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 949 |
essv6329387 | deletion | SAMN00014348 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,196 |
essv6351529 | deletion | SAMN00009160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,450 |
essv6355735 | deletion | SAMN00001033 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,189 |
essv6369852 | deletion | SAMN00007756 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,140 |
essv6391094 | deletion | SAMN00000530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,423 |
essv6395156 | deletion | SAMN00006544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,696 |
essv6402148 | deletion | SAMN00009154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,617 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5397811 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5420868 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5423837 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5424315 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5429601 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5434173 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5434634 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5458969 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5498185 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5502612 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5503027 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5528396 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5532726 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5537932 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5543364 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5549909 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5553598 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5554306 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5562735 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5595711 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5608383 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5626017 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5656359 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5658493 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5662636 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5674721 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5694257 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5694294 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5719035 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5722460 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5739083 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5753201 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5761417 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5774549 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5775671 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5791028 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5809107 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5830942 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5835464 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5838581 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5844295 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5845379 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5871941 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5901578 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5916558 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5919380 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5930061 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5935496 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5937169 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5938177 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5945048 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5963097 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5966709 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv5972824 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6003736 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6004507 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6014793 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6021570 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6035024 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6035695 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6045136 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6054537 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6067764 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6068505 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6069012 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6070094 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6080795 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6082878 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6096295 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6097793 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6112045 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6112329 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6117561 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6124962 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6130949 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6141011 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6162905 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6183418 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6215637 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6232195 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6246203 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6248994 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6249737 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6254993 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6270589 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6287700 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6304225 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6306588 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6306637 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6307976 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6309029 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6318249 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6327704 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6329387 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6351529 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6355735 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6369852 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6391094 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6395156 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
essv6402148 | Remapped | Perfect | NC_000004.12:g.117 658811_117669964de lTT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 117,658,811 | 117,669,964 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6096295 | 7 | SAMN00000386 | SNP array | Probe signal intensity | Pass |
essv6306637 | 7 | SAMN00000441 | SNP array | Probe signal intensity | Pass |
essv5458969 | 7 | SAMN00000452 | SNP array | Probe signal intensity | Pass |
essv5830942 | 7 | SAMN00000457 | SNP array | Probe signal intensity | Pass |
essv6318249 | 7 | SAMN00000475 | SNP array | Probe signal intensity | Pass |
essv5901578 | 7 | SAMN00000486 | SNP array | Probe signal intensity | Pass |
essv6327704 | 7 | SAMN00000519 | SNP array | Probe signal intensity | Pass |
essv6070094 | 7 | SAMN00000528 | SNP array | Probe signal intensity | Pass |
essv6391094 | 7 | SAMN00000530 | SNP array | Probe signal intensity | Pass |
essv5429601 | 7 | SAMN00000539 | SNP array | Probe signal intensity | Pass |
essv5844295 | 7 | SAMN00000922 | SNP array | Probe signal intensity | Pass |
essv5543364 | 7 | SAMN00001029 | SNP array | Probe signal intensity | Pass |
essv6306588 | 7 | SAMN00001032 | SNP array | Probe signal intensity | Pass |
essv6355735 | 7 | SAMN00001033 | SNP array | Probe signal intensity | Pass |
essv5674721 | 7 | SAMN00001036 | SNP array | Probe signal intensity | Pass |
essv5562735 | 7 | SAMN00001163 | SNP array | Probe signal intensity | Pass |
essv5774549 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
essv5719035 | 7 | SAMN00001166 | SNP array | Probe signal intensity | Pass |
essv5835464 | 7 | SAMN00001168 | SNP array | Probe signal intensity | Pass |
essv5434173 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
essv6021570 | 7 | SAMN00001184 | SNP array | Probe signal intensity | Pass |
essv5397811 | 7 | SAMN00001192 | SNP array | Probe signal intensity | Pass |
essv5434634 | 7 | SAMN00001253 | SNP array | Probe signal intensity | Pass |
essv6045136 | 7 | SAMN00001305 | SNP array | Probe signal intensity | Pass |
essv5595711 | 7 | SAMN00001312 | SNP array | Probe signal intensity | Pass |
essv6112045 | 7 | SAMN00004637 | SNP array | Probe signal intensity | Pass |
essv6413234 | 7 | SAMN00004638 | SNP array | Probe signal intensity | Pass |
essv5423837 | 7 | SAMN00004655 | SNP array | Probe signal intensity | Pass |
essv6035695 | 7 | SAMN00004660 | SNP array | Probe signal intensity | Pass |
essv6141011 | 7 | SAMN00004666 | SNP array | Probe signal intensity | Pass |
essv5791028 | 7 | SAMN00004669 | SNP array | Probe signal intensity | Pass |
essv5503027 | 7 | SAMN00004672 | SNP array | Probe signal intensity | Pass |
essv5972824 | 7 | SAMN00004696 | SNP array | Probe signal intensity | Pass |
essv5424315 | 7 | SAMN00006338 | SNP array | Probe signal intensity | Pass |
essv5916558 | 7 | SAMN00006340 | SNP array | Probe signal intensity | Pass |
essv6004507 | 7 | SAMN00006345 | SNP array | Probe signal intensity | Pass |
essv5537932 | 7 | SAMN00006346 | SNP array | Probe signal intensity | Pass |
essv5694294 | 7 | SAMN00006351 | SNP array | Probe signal intensity | Pass |
essv6080795 | 7 | SAMN00006354 | SNP array | Probe signal intensity | Pass |
essv6307976 | 7 | SAMN00006366 | SNP array | Probe signal intensity | Pass |
essv6183418 | 7 | SAMN00006376 | SNP array | Probe signal intensity | Pass |
essv6124962 | 7 | SAMN00006378 | SNP array | Probe signal intensity | Pass |
essv6215637 | 7 | SAMN00006382 | SNP array | Probe signal intensity | Pass |
essv6014793 | 7 | SAMN00006385 | SNP array | Probe signal intensity | Pass |
essv6408571 | 7 | SAMN00006408 | SNP array | Probe signal intensity | Pass |
essv5498185 | 7 | SAMN00006412 | SNP array | Probe signal intensity | Pass |
essv5420868 | 7 | SAMN00006416 | SNP array | Probe signal intensity | Pass |
essv6112329 | 7 | SAMN00006419 | SNP array | Probe signal intensity | Pass |
essv6483822 | 7 | SAMN00006421 | SNP array | Probe signal intensity | Pass |
essv6082878 | 7 | SAMN00006495 | SNP array | Probe signal intensity | Pass |
essv5761417 | 7 | SAMN00006499 | SNP array | Probe signal intensity | Pass |
essv5694257 | 7 | SAMN00006516 | SNP array | Probe signal intensity | Pass |
essv5966709 | 7 | SAMN00006522 | SNP array | Probe signal intensity | Pass |
essv5775671 | 7 | SAMN00006531 | SNP array | Probe signal intensity | Pass |
essv6254993 | 7 | SAMN00006538 | SNP array | Probe signal intensity | Pass |
essv6395156 | 7 | SAMN00006544 | SNP array | Probe signal intensity | Pass |
essv5662636 | 7 | SAMN00006546 | SNP array | Probe signal intensity | Pass |
essv6117561 | 7 | SAMN00006580 | SNP array | Probe signal intensity | Pass |
essv5845379 | 7 | SAMN00006589 | SNP array | Probe signal intensity | Pass |
essv5937169 | 7 | SAMN00006593 | SNP array | Probe signal intensity | Pass |
essv6069012 | 7 | SAMN00006596 | SNP array | Probe signal intensity | Pass |
essv6035024 | 7 | SAMN00006820 | SNP array | Probe signal intensity | Pass |
essv5919380 | 7 | SAMN00007700 | SNP array | Probe signal intensity | Pass |
essv6232195 | 7 | SAMN00007701 | SNP array | Probe signal intensity | Pass |
essv5722460 | 7 | SAMN00007705 | SNP array | Probe signal intensity | Pass |
essv6054537 | 7 | SAMN00007717 | SNP array | Probe signal intensity | Pass |
essv6249737 | 7 | SAMN00007722 | SNP array | Probe signal intensity | Pass |
essv6130949 | 7 | SAMN00007725 | SNP array | Probe signal intensity | Pass |
essv5528396 | 7 | SAMN00007726 | SNP array | Probe signal intensity | Pass |
essv6309029 | 7 | SAMN00007732 | SNP array | Probe signal intensity | Pass |
essv5938177 | 7 | SAMN00007737 | SNP array | Probe signal intensity | Pass |
essv5871941 | 7 | SAMN00007738 | SNP array | Probe signal intensity | Pass |
essv6570232 | 7 | SAMN00007742 | SNP array | Probe signal intensity | Pass |
essv6097793 | 7 | SAMN00007743 | SNP array | Probe signal intensity | Pass |
essv5809107 | 7 | SAMN00007747 | SNP array | Probe signal intensity | Pass |
essv6003736 | 7 | SAMN00007749 | SNP array | Probe signal intensity | Pass |
essv5935496 | 7 | SAMN00007753 | SNP array | Probe signal intensity | Pass |
essv6369852 | 7 | SAMN00007756 | SNP array | Probe signal intensity | Pass |
essv6304225 | 7 | SAMN00007804 | SNP array | Probe signal intensity | Pass |
essv5838581 | 7 | SAMN00007817 | SNP array | Probe signal intensity | Pass |
essv5553598 | 7 | SAMN00007823 | SNP array | Probe signal intensity | Pass |
essv6246203 | 7 | SAMN00009111 | SNP array | Probe signal intensity | Pass |
essv5656359 | 7 | SAMN00009123 | SNP array | Probe signal intensity | Pass |
essv6544494 | 7 | SAMN00009125 | SNP array | Probe signal intensity | Pass |
essv5963097 | 7 | SAMN00009128 | SNP array | Probe signal intensity | Pass |
essv5532726 | 7 | SAMN00009139 | SNP array | Probe signal intensity | Pass |
essv6248994 | 7 | SAMN00009146 | SNP array | Probe signal intensity | Pass |
essv5554306 | 7 | SAMN00009153 | SNP array | Probe signal intensity | Pass |
essv6402148 | 7 | SAMN00009154 | SNP array | Probe signal intensity | Pass |
essv6068505 | 7 | SAMN00009157 | SNP array | Probe signal intensity | Pass |
essv6351529 | 7 | SAMN00009160 | SNP array | Probe signal intensity | Pass |
essv6595024 | 7 | SAMN00009174 | SNP array | Probe signal intensity | Pass |
essv5502612 | 7 | SAMN00014312 | SNP array | Probe signal intensity | Pass |
essv6449348 | 7 | SAMN00014314 | SNP array | Probe signal intensity | Pass |
essv6067764 | 7 | SAMN00014317 | SNP array | Probe signal intensity | Pass |
essv6411112 | 7 | SAMN00014341 | SNP array | Probe signal intensity | Pass |
essv5739083 | 7 | SAMN00014345 | SNP array | Probe signal intensity | Pass |
essv6287700 | 7 | SAMN00014347 | SNP array | Probe signal intensity | Pass |
essv6329387 | 7 | SAMN00014348 | SNP array | Probe signal intensity | Pass |
essv5930061 | 7 | SAMN00014350 | SNP array | Probe signal intensity | Pass |
essv5945048 | 7 | SAMN00016977 | SNP array | Probe signal intensity | Pass |
essv5608383 | 7 | SAMN00016978 | SNP array | Probe signal intensity | Pass |
essv6547155 | 7 | SAMN00016979 | SNP array | Probe signal intensity | Pass |
essv5658493 | 7 | SAMN00016981 | SNP array | Probe signal intensity | Pass |
essv5549909 | 7 | SAMN00801352 | SNP array | Probe signal intensity | Pass |
essv5753201 | 7 | SAMN00801420 | SNP array | Probe signal intensity | Pass |
essv6162905 | 7 | SAMN00801422 | SNP array | Probe signal intensity | Pass |
essv5626017 | 7 | SAMN00801485 | SNP array | Probe signal intensity | Pass |
essv6270589 | 7 | SAMN00801650 | SNP array | Probe signal intensity | Pass |