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Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd213 | essv9837828 | copy number loss | SNP array | Probe signal intensity | No | KSM006 | GRCh38.p12 | NC_000001.11 | 1 | 143541857 | 143751078 | Remapped | 1.00008 | ||||||||
estd213 | essv9837839 | copy number loss | SNP array | Probe signal intensity | No | OA092 | GRCh38.p12 | NC_000001.11 | 1 | 143621884 | 143852961 | Remapped | 1.00041 | ||||||||
estd213 | essv9837874 | copy number loss | SNP array | Probe signal intensity | No | 1WS | GRCh38.p12 | NC_000001.11 | 1 | 143509840 | 143751078 | Remapped | 0.81623 | ||||||||
estd213 | essv9837877 | copy number loss | SNP array | Probe signal intensity | No | KSF024 | GRCh38.p12 | NC_000001.11 | 1 | 143509840 | 143764768 | Remapped | 0.82437 | ||||||||
estd213 | essv9837908 | copy number loss | SNP array | Probe signal intensity | No | 8S | GRCh38.p12 | NC_000001.11 | 1 | 143541857 | 143942271 | Remapped | 1.00024 | ||||||||
estd213 | essv9837920 | copy number loss | SNP array | Probe signal intensity | No | KSF005 | GRCh38.p12 | NC_000001.11 | 1 | 12781785 | 13152461 | Remapped | 0.76409 | ||||||||
estd213 | essv9837973 | copy number loss | SNP array | Probe signal intensity | No | OA016 | GRCh38.p12 | NC_000002.12 | 2 | 34498136 | 34502800 | Remapped | 1 | ||||||||
estd213 | essv9838024 | copy number loss | SNP array | Probe signal intensity | No | OA062 | GRCh38.p12 | NC_000001.11 | 1 | 15823420 | 15828515 | Remapped | 1 | ||||||||
estd213 | essv9838025 | copy number loss | SNP array | Probe signal intensity | No | OA054 | GRCh38.p12 | NC_000001.11 | 1 | 15823420 | 15828515 | Remapped | 1 | ||||||||
estd213 | essv9838026 | copy number loss | SNP array | Probe signal intensity | No | OA053 | GRCh38.p12 | NC_000001.11 | 1 | 15823420 | 15828515 | Remapped | 1 | ||||||||
estd213 | essv9838099 | copy number loss | SNP array | Probe signal intensity | No | KSM008 | GRCh38.p12 | NC_000001.11 | 1 | 152789447 | 152796224 | Remapped | 1 | ||||||||
estd213 | essv9838100 | copy number loss | SNP array | Probe signal intensity | No | KSM003 | GRCh38.p12 | NC_000001.11 | 1 | 152789447 | 152796224 | Remapped | 1 | ||||||||
estd213 | essv9838194 | copy number loss | SNP array | Probe signal intensity | No | OA064 | GRCh38.p12 | NC_000001.11 | 1 | 147489036 | 147498757 | Remapped | 0.99387 | ||||||||
estd213 | essv9838200 | copy number gain | SNP array | Probe signal intensity | No | KSM003 | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838202 | copy number gain | SNP array | Probe signal intensity | No | KSF024 | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838203 | copy number gain | SNP array | Probe signal intensity | No | KSF008 | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838205 | copy number loss | SNP array | Probe signal intensity | No | 2RB | GRCh38.p12 | NC_000002.12 | 2 | 35752724 | 35762881 | Remapped | 1 | ||||||||
estd213 | essv9838218 | copy number loss | SNP array | Probe signal intensity | No | KSF008 | GRCh38.p12 | NC_000001.11 | 1 | 239426923 | 239437863 | Remapped | 1 | ||||||||
estd213 | essv9838290 | copy number loss | SNP array | Probe signal intensity | No | B4 | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109692006 | Remapped | 1 | ||||||||
estd213 | essv9838301 | copy number loss | SNP array | Probe signal intensity | No | B10 | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109692006 | Remapped | 1 | ||||||||
estd213 | essv9838312 | copy number loss | SNP array | Probe signal intensity | No | 3LK | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109692006 | Remapped | 1 | ||||||||
estd213 | essv9838315 | copy number gain | SNP array | Probe signal intensity | No | KSM008 | GRCh38.p12 | NC_000001.11 | 1 | 109683865 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838323 | copy number loss | SNP array | Probe signal intensity | No | 2RB | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109692006 | Remapped | 1 | ||||||||
estd213 | essv9838326 | copy number gain | SNP array | Probe signal intensity | No | OA062 | GRCh38.p12 | NC_000001.11 | 1 | 109681805 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838327 | copy number gain | SNP array | Probe signal intensity | No | OA016 | GRCh38.p12 | NC_000001.11 | 1 | 109681805 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838328 | copy number gain | SNP array | Probe signal intensity | No | OA059 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838329 | copy number gain | SNP array | Probe signal intensity | No | OA053 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838330 | copy number gain | SNP array | Probe signal intensity | No | OA018b | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838331 | copy number gain | SNP array | Probe signal intensity | No | OA017 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838332 | copy number gain | SNP array | Probe signal intensity | No | OA013 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838333 | copy number gain | SNP array | Probe signal intensity | No | OA007 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838334 | copy number loss | SNP array | Probe signal intensity | No | 1WS | GRCh38.p12 | NC_000001.11 | 1 | 109690352 | 109692006 | Remapped | 1 | ||||||||
estd213 | essv9838335 | copy number gain | SNP array | Probe signal intensity | No | OA0039 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838336 | copy number gain | SNP array | Probe signal intensity | No | OA001 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838337 | copy number gain | SNP array | Probe signal intensity | No | KSM006 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838338 | copy number gain | SNP array | Probe signal intensity | No | KSF005 | GRCh38.p12 | NC_000001.11 | 1 | 109681762 | 109700331 | Remapped | 1 | ||||||||
estd213 | essv9838345 | copy number loss | SNP array | Probe signal intensity | No | OA2A | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838356 | copy number loss | SNP array | Probe signal intensity | No | OA092 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838367 | copy number loss | SNP array | Probe signal intensity | No | OA091 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838368 | copy number loss | SNP array | Probe signal intensity | No | OA054 | GRCh38.p12 | NC_000001.11 | 1 | 105458984 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838369 | copy number loss | SNP array | Probe signal intensity | No | OA018b | GRCh38.p12 | NC_000001.11 | 1 | 105458984 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838379 | copy number loss | SNP array | Probe signal intensity | No | OA074 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838390 | copy number loss | SNP array | Probe signal intensity | No | OA062 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838401 | copy number loss | SNP array | Probe signal intensity | No | OA018b | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838412 | copy number loss | SNP array | Probe signal intensity | No | OA016 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838423 | copy number loss | SNP array | Probe signal intensity | No | KSM008 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838434 | copy number loss | SNP array | Probe signal intensity | No | KSM006 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838445 | copy number loss | SNP array | Probe signal intensity | No | KSM003 | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838456 | copy number loss | SNP array | Probe signal intensity | No | 1WS | GRCh38.p12 | NC_000001.11 | 1 | 112153052 | 112154768 | Remapped | 1 | ||||||||
estd213 | essv9838540 | copy number loss | SNP array | Probe signal intensity | No | OA072 | GRCh38.p12 | NC_000001.11 | 1 | 143734438 | 143764768 | Remapped | 1 | ||||||||
estd213 | essv9838542 | copy number gain | SNP array | Probe signal intensity | No | KSM008 | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152613762 | Remapped | 1 | ||||||||
estd213 | essv9838543 | copy number gain | SNP array | Probe signal intensity | No | 8S | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152613762 | Remapped | 1 | ||||||||
estd213 | essv9838546 | copy number loss | SNP array | Probe signal intensity | No | OA053 | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152614118 | Remapped | 1 | ||||||||
estd213 | essv9838547 | copy number loss | SNP array | Probe signal intensity | No | OA018 | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152614118 | Remapped | 1 | ||||||||
estd213 | essv9838548 | copy number loss | SNP array | Probe signal intensity | No | OA013 | GRCh38.p12 | NC_000001.11 | 1 | 152583230 | 152614118 | Remapped | 1 | ||||||||
estd213 | essv9838572 | copy number gain | SNP array | Probe signal intensity | No | OA017 | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152613802 | Remapped | 1 | ||||||||
estd213 | essv9838573 | copy number gain | SNP array | Probe signal intensity | No | OA016 | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152613802 | Remapped | 1 | ||||||||
estd213 | essv9838575 | copy number loss | SNP array | Probe signal intensity | No | OA092 | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152614118 | Remapped | 1 | ||||||||
estd213 | essv9838576 | copy number loss | SNP array | Probe signal intensity | No | OA020 | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152614118 | Remapped | 1 | ||||||||
estd213 | essv9838577 | copy number loss | SNP array | Probe signal intensity | No | OA005 | GRCh38.p12 | NC_000001.11 | 1 | 152580278 | 152614118 | Remapped | 1 | ||||||||
estd213 | essv9838580 | copy number gain | SNP array | Probe signal intensity | No | OA020 | GRCh38.p12 | NC_000001.11 | 1 | 12797714 | 12832455 | Remapped | 1.00856 | ||||||||
estd213 | essv9838606 | copy number gain | SNP array | Probe signal intensity | No | OA062 | GRCh38.p12 | NC_000001.11 | 1 | 152578849 | 152618089 | Remapped | 1 | ||||||||
estd213 | essv9838624 | copy number loss | SNP array | Probe signal intensity | No | 3LK | GRCh38.p12 | NC_000001.11 | 1 | 12781785 | 12823233 | Remapped | 1.0068 | ||||||||
estd213 | essv9838625 | copy number loss | SNP array | Probe signal intensity | No | OA072 | GRCh38.p12 | NC_000002.12 | 2 | 34474248 | 34515572 | Remapped | 1 | ||||||||
estd213 | essv9838628 | copy number gain | SNP array | Probe signal intensity | No | OA074 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838629 | copy number gain | SNP array | Probe signal intensity | No | OA062 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838630 | copy number gain | SNP array | Probe signal intensity | No | OA018 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838631 | copy number gain | SNP array | Probe signal intensity | No | OA007 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838632 | copy number gain | SNP array | Probe signal intensity | No | OA005 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838633 | copy number gain | SNP array | Probe signal intensity | No | OA0039 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838635 | copy number gain | SNP array | Probe signal intensity | No | OA003 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838636 | copy number gain | SNP array | Probe signal intensity | No | KSM003 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838637 | copy number gain | SNP array | Probe signal intensity | No | KSF008 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838638 | copy number gain | SNP array | Probe signal intensity | No | 2RB | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72345465 | Remapped | 1 | ||||||||
estd213 | essv9838664 | copy number loss | SNP array | Probe signal intensity | No | KSM006 | GRCh38.p12 | NC_000001.11 | 1 | 248585893 | 248633912 | Remapped | 1 | ||||||||
estd213 | essv9838665 | copy number loss | SNP array | Probe signal intensity | No | KSF024 | GRCh38.p12 | NC_000001.11 | 1 | 248585893 | 248633912 | Remapped | 1 | ||||||||
estd213 | essv9838666 | copy number loss | SNP array | Probe signal intensity | No | B4 | GRCh38.p12 | NC_000001.11 | 1 | 248585893 | 248633912 | Remapped | 1 | ||||||||
estd213 | essv9838668 | copy number loss | SNP array | Probe signal intensity | No | B10 | GRCh38.p12 | NC_000001.11 | 1 | 248585893 | 248633912 | Remapped | 1 | ||||||||
estd213 | essv9838681 | copy number gain | SNP array | Probe signal intensity | No | KSF008 | GRCh38.p12 | NC_000001.11 | 1 | 143550213 | 143603040 | Remapped | 1.00021 | ||||||||
estd213 | essv9838688 | copy number loss | SNP array | Probe signal intensity | No | KSF024 | GRCh38.p12 | NC_000001.11 | 1 | 25266637 | 25320455 | Remapped | 1 | ||||||||
estd213 | essv9838690 | copy number loss | SNP array | Probe signal intensity | No | OA017 | GRCh38.p12 | NC_000001.11 | 1 | 143710401 | 143764768 | Remapped | 1 | ||||||||
estd213 | essv9838710 | copy number loss | SNP array | Probe signal intensity | No | OA059 | GRCh38.p12 | NC_000001.11 | 1 | 248568732 | 248633912 | Remapped | 1 | ||||||||
estd213 | essv9838719 | copy number gain | SNP array | Probe signal intensity | No | KSM008 | GRCh38.p12 | NC_000001.11 | 1 | 16868660 | 16935752 | Remapped | 1 | ||||||||
estd213 | essv9838720 | copy number gain | SNP array | Probe signal intensity | No | KSM006 | GRCh38.p12 | NC_000001.11 | 1 | 16868660 | 16935752 | Remapped | 1 | ||||||||
estd213 | essv9838729 | copy number gain | SNP array | Probe signal intensity | No | KSF005 | GRCh38.p12 | NC_000001.11 | 1 | 143545399 | 143616084 | Remapped | 1.0001 | ||||||||
estd213 | essv9838732 | copy number gain | SNP array | Probe signal intensity | No | OA064 | GRCh38.p12 | NC_000001.11 | 1 | 72303253 | 72379161 | Remapped | 1 | ||||||||
estd213 | essv9838752 | copy number gain | SNP array | Probe signal intensity | No | 2RB | GRCh38.p12 | NC_000001.11 | 1 | 12134394 | 12217607 | Remapped | 1 | ||||||||
estd213 | essv9838753 | copy number loss | SNP array | Probe signal intensity | No | OA018b | GRCh38.p12 | NC_000001.11 | 1 | 143624431 | 143708149 | Remapped | 1.00014 | ||||||||
estd213 | essv9838763 | copy number loss | SNP array | Probe signal intensity | No | B10 | GRCh38.p12 | NC_000001.11 | 1 | 196740630 | 196832942 | Remapped | 1 | ||||||||
estd213 | essv9838854 | copy number gain | SNP array | Probe signal intensity | No | OA062 | GRCh38.p12 | NC_000001.11 | 1 | 143546535 | 143673272 | Remapped | 1.00021 | ||||||||
estd213 | essv9838861 | copy number gain | SNP array | Probe signal intensity | No | OA013 | GRCh38.p12 | NC_000001.11 | 1 | 161541620 | 161669769 | Remapped | 1 | ||||||||
estd213 | essv9838867 | copy number loss | SNP array | Probe signal intensity | No | OA072 | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838878 | copy number loss | SNP array | Probe signal intensity | No | OA064 | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838889 | copy number loss | SNP array | Probe signal intensity | No | OA053 | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838900 | copy number loss | SNP array | Probe signal intensity | No | OA013 | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838911 | copy number loss | SNP array | Probe signal intensity | No | B4 | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838922 | copy number loss | SNP array | Probe signal intensity | No | 2RB | GRCh38.p12 | NC_000001.11 | 1 | 105476583 | 105479753 | Remapped | 1 | ||||||||
estd213 | essv9838924 | copy number loss | SNP array | Probe signal intensity | No | 1WS | GRCh38.p12 | NC_000001.11 | 1 | 143762042 | 143942271 | Remapped | 1.00043 | ||||||||
estd213 | essv9838931 | copy number loss | SNP array | Probe signal intensity | No | 2RB | GRCh38.p12 | NC_000001.11 | 1 | 143530180 | 143735192 | Remapped | 0.99986 | ||||||||
estd213 | essv9838932 | copy number loss | SNP array | Probe signal intensity | No | KSM008 | GRCh38.p12 | NC_000001.11 | 1 | 143541857 | 143748421 | Remapped | 1.00008 |