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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd24 | essv100225 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22286 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12954384 | Remapped | 0.90792 | |||||||
estd24 | essv100377 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22300 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv100556 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22298 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv100607 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22298 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv100986 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21693 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv101012 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21693 | GRCh38.p12 | NC_000001.11 | 1 | 5020601 | 5067210 | 5108785 | 5109223 | Remapped | 1 | ||||||
estd24 | essv101040 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21693 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv101160 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21618 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv101171 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21618 | GRCh38.p12 | NC_000001.11 | 1 | 818825 | 821737 | 823660 | 832701 | Remapped | 1 | ||||||
estd24 | essv101177 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21618 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 13082478 | 13082478 | Remapped | 1.51425 | ||||||
estd24 | essv101326 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21805 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv101537 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21603 | GRCh38.p12 | NC_000001.11 | 1 | 12793771 | 12793771 | 12874525 | 12874525 | Remapped | 1.00408 | ||||||
estd24 | essv92517 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22233 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv92594 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22233 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 13082478 | 13082478 | Remapped | 1.51425 | ||||||
estd24 | essv92753 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21944 | GRCh38.p12 | NC_000001.11 | 1 | 1231654 | 1232736 | 1233696 | 1234125 | Remapped | 1 | ||||||
estd24 | essv92767 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21944 | GRCh38.p12 | NC_000001.11 | 1 | 1115357 | 1116308 | 1116446 | 1117318 | Remapped | 1 | ||||||
estd24 | essv92784 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21944 | GRCh38.p12 | NC_000001.11 | 1 | 12810656 | 12810656 | 12921717 | 12921717 | Remapped | 1.00288 | ||||||
estd24 | essv92785 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21944 | GRCh38.p12 | NC_000001.11 | 1 | 13102125 | 13102125 | 13224571 | Remapped | 1.16399 | |||||||
estd24 | essv92840 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21939 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv92841 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21939 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv93021 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21863 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv93058 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21863 | GRCh38.p12 | NC_000001.11 | 1 | 16034766 | 16037532 | 16063297 | 16063514 | Remapped | 1 | ||||||
estd24 | essv93105 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21863 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12859560 | 12859560 | Remapped | 1.0036 | ||||||
estd24 | essv93159 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21863 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv93282 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22170 | GRCh38.p12 | NC_000001.11 | 1 | 12786801 | 12786801 | 12859560 | 12859560 | Remapped | 1.00397 | ||||||
estd24 | essv93411 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22170 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv93510 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22128 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv93757 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21972 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv93793 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21634 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv93868 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21634 | GRCh38.p12 | NC_000001.11 | 1 | 13060075 | 13124649 | 13124649 | Remapped | 0.81849 | |||||||
estd24 | essv94307 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21808 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv94423 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21808 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12859560 | 12859560 | Remapped | 1.0036 | ||||||
estd24 | essv94480 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21932 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv94614 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21932 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 13082478 | 13082478 | Remapped | 1.51425 | ||||||
estd24 | essv94661 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21791 | GRCh38.p12 | NC_000001.11 | 1 | 13114868 | 13114868 | 13447679 | 13447679 | Remapped | 0.64859 | ||||||
estd24 | essv94766 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21791 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv94798 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21791 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv94910 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22231 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv95060 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21721 | GRCh38.p12 | NC_000001.11 | 1 | 12793771 | 12793771 | 12874525 | 12874525 | Remapped | 1.00408 | ||||||
estd24 | essv95205 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21721 | GRCh38.p12 | NC_000001.11 | 1 | 1231654 | 1232736 | 1233696 | 1234125 | Remapped | 1 | ||||||
estd24 | essv95313 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21872 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12859560 | 12859560 | Remapped | 1.0036 | ||||||
estd24 | essv95376 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21872 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv95436 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21847 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12954384 | Remapped | 0.90792 | |||||||
estd24 | essv95470 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21847 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv95661 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21841 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv95744 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21841 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv95868 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21911 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv95883 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21911 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv95999 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22127 | GRCh38.p12 | NC_000001.11 | 1 | 12786801 | 12786801 | 12857598 | 12857598 | Remapped | 1.00408 | ||||||
estd24 | essv96187 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22007 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv96195 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22007 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv96257 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22371 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 13082478 | 13082478 | Remapped | 1.51425 | ||||||
estd24 | essv96283 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22371 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv96332 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22371 | GRCh38.p12 | NC_000001.11 | 1 | 817316 | 818825 | 844376 | 855090 | Remapped | 1 | ||||||
estd24 | essv96399 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22371 | GRCh38.p12 | NC_000001.11 | 1 | 1115357 | 1116308 | 1116446 | 1117318 | Remapped | 1 | ||||||
estd24 | essv96403 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22371 | GRCh38.p12 | NC_000001.11 | 1 | 1231654 | 1232736 | 1233696 | 1234125 | Remapped | 1 | ||||||
estd24 | essv96441 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22261 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv96690 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22011 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv96818 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21659 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv96954 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21817 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12859560 | 12859560 | Remapped | 1.0036 | ||||||
estd24 | essv97100 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22075 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv97209 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22075 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv97426 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21879 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv97562 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21616 | GRCh38.p12 | NC_000001.11 | 1 | 12806767 | 12806767 | 12832107 | 12832107 | Remapped | 1.01125 | ||||||
estd24 | essv97675 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22278 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12874525 | 12874525 | Remapped | 1.00339 | ||||||
estd24 | essv97703 | copy number loss | Oligo aCGH | Probe signal intensity | No | 22278 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv97715 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22278 | GRCh38.p12 | NC_000001.11 | 1 | 16037634 | 16037781 | 16063297 | 16063514 | Remapped | 1 | ||||||
estd24 | essv97813 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21837 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv97880 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21837 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv97940 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21837 | GRCh38.p12 | NC_000001.11 | 1 | 13102125 | 13102125 | 13447679 | 13447679 | Remapped | 0.6571 | ||||||
estd24 | essv97952 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21837 | GRCh38.p12 | NC_000001.11 | 1 | 12793771 | 12793771 | 12874525 | 12874525 | Remapped | 1.00408 | ||||||
estd24 | essv98305 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21772 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv98419 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22352 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 13082478 | 13082478 | Remapped | 1.51425 | ||||||
estd24 | essv99068 | copy number gain | Oligo aCGH | Probe signal intensity | No | 21938 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12859560 | 12859560 | Remapped | 1.0036 | ||||||
estd24 | essv99092 | copy number loss | Oligo aCGH | Probe signal intensity | No | 21938 | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | ||||||
estd24 | essv99200 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22275 | GRCh38.p12 | NC_000001.11 | 1 | 5976575 | 5977509 | 5977977 | 5978371 | Remapped | 1 | ||||||
estd24 | essv99314 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22275 | GRCh38.p12 | NC_000001.11 | 1 | 12779297 | 12779297 | 12857598 | 12857598 | Remapped | 1.00369 | ||||||
estd24 | essv99649 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22217 | GRCh38.p12 | NC_000001.11 | 1 | 12786801 | 12786801 | 12859560 | 12859560 | Remapped | 1.00397 | ||||||
estd24 | essv99725 | copy number gain | Oligo aCGH | Probe signal intensity | No | 22217 | GRCh38.p12 | NC_000001.11 | 1 | 13114868 | 13114868 | 13224571 | Remapped | 1.18664 | |||||||
estd24 | esv2750488 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750552 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750553 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750566 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750575 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750642 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750643 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750655 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750702 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750723 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750730 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750735 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv2750751 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629054 | 629054 | 629073 | 714367 | Remapped | 1 | |||||||||
estd24 | esv32594 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1116308 | 1116446 | Remapped | 1 | |||||||||||
estd24 | esv32650 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 16037532 | 16063297 | Remapped | 1 | |||||||||||
estd24 | esv32750 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12786801 | 12954384 | Remapped | 0.90419 | |||||||||||
estd24 | esv32797 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 5067210 | 5108785 | Remapped | 1 | |||||||||||
estd24 | esv33065 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 13111026 | 13224571 | Remapped | 1.1792 | |||||||||||
estd24 | esv33437 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 5977509 | 5977977 | Remapped | 1 | |||||||||||
estd24 | esv33767 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1232736 | 1233696 | Remapped | 1 | |||||||||||
estd24 | esv33946 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 818825 | 844376 | Remapped | 1 |