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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd201 | essv6668864 | deletion | Sequencing | Paired-end mapping | No | SSM031 | GRCh38.p12 | NC_000001.11 | 1 | 820918 | 823458 | Remapped | 1 | ||||||||
| estd201 | essv6675156 | deletion | Sequencing | Paired-end mapping | No | SSM032 | GRCh38.p12 | NC_000001.11 | 1 | 820654 | 821044 | Remapped | 1 | ||||||||
| estd201 | essv6675157 | deletion | Sequencing | Paired-end mapping | No | SSM032 | GRCh38.p12 | NC_000001.11 | 1 | 820932 | 821191 | Remapped | 1 | ||||||||
| estd201 | essv6675158 | deletion | Sequencing | Paired-end mapping | No | SSM032 | GRCh38.p12 | NC_000001.11 | 1 | 820932 | 823461 | Remapped | 1 | ||||||||
| estd201 | essv6679102 | deletion | Sequencing | Paired-end mapping | No | SSM033 | GRCh38.p12 | NC_000001.11 | 1 | 820633 | 821255 | Remapped | 1 | ||||||||
| estd201 | essv6679103 | deletion | Sequencing | Paired-end mapping | No | SSM033 | GRCh38.p12 | NC_000001.11 | 1 | 821350 | 822986 | Remapped | 1 | ||||||||
| estd201 | essv6679104 | deletion | Sequencing | Paired-end mapping | No | SSM033 | GRCh38.p12 | NC_000001.11 | 1 | 821350 | 823460 | Remapped | 1 | ||||||||
| estd201 | essv6682789 | deletion | Sequencing | Paired-end mapping | No | SSM034 | GRCh38.p12 | NC_000001.11 | 1 | 820654 | 821048 | Remapped | 1 | ||||||||
| estd201 | essv6695432 | deletion | Sequencing | Paired-end mapping | No | SSM006 | GRCh38.p12 | NC_000001.11 | 1 | 831033 | 833732 | Remapped | 1 | ||||||||
| estd201 | essv6699550 | deletion | Sequencing | Paired-end mapping | No | SSM039 | GRCh38.p12 | NC_000001.11 | 1 | 821177 | 823159 | Remapped | 1 | ||||||||
| estd201 | essv6703800 | deletion | Sequencing | Paired-end mapping | No | SSM040 | GRCh38.p12 | NC_000001.11 | 1 | 820587 | 821252 | Remapped | 1 | ||||||||
| estd201 | essv6710539 | deletion | Sequencing | Paired-end mapping | No | SSM042 | GRCh38.p12 | NC_000001.11 | 1 | 820629 | 821091 | Remapped | 1 | ||||||||
| estd201 | essv6714176 | deletion | Sequencing | Paired-end mapping | No | SSM043 | GRCh38.p12 | NC_000001.11 | 1 | 820629 | 821099 | Remapped | 1 | ||||||||
| estd201 | essv6714178 | deletion | Sequencing | Paired-end mapping | No | SSM043 | GRCh38.p12 | NC_000001.11 | 1 | 821194 | 822993 | Remapped | 1 | ||||||||
| estd201 | essv6714179 | deletion | Sequencing | Paired-end mapping | No | SSM043 | GRCh38.p12 | NC_000001.11 | 1 | 822466 | 822617 | Remapped | 1 | ||||||||
| estd201 | essv6721946 | deletion | Sequencing | Paired-end mapping | No | SSM045 | GRCh38.p12 | NC_000001.11 | 1 | 820916 | 823458 | Remapped | 1 | ||||||||
| estd201 | essv6729558 | deletion | Sequencing | Paired-end mapping | No | SSM047 | GRCh38.p12 | NC_000001.11 | 1 | 820931 | 823458 | Remapped | 1 | ||||||||
| estd201 | essv6733450 | deletion | Sequencing | Paired-end mapping | No | SSM049 | GRCh38.p12 | NC_000001.11 | 1 | 821455 | 822990 | Remapped | 1 | ||||||||
| estd201 | essv6744907 | deletion | Sequencing | Paired-end mapping | No | SSM055 | GRCh38.p12 | NC_000001.11 | 1 | 821499 | 823390 | Remapped | 1 | ||||||||
| estd201 | essv6747741 | deletion | Sequencing | Paired-end mapping | No | SSM056 | GRCh38.p12 | NC_000001.11 | 1 | 821639 | 823385 | Remapped | 1 | ||||||||
| estd201 | essv6753462 | deletion | Sequencing | Paired-end mapping | No | SSM058 | GRCh38.p12 | NC_000001.11 | 1 | 821544 | 822992 | Remapped | 1 | ||||||||
| estd201 | essv6759010 | deletion | Sequencing | Paired-end mapping | No | SSM061 | GRCh38.p12 | NC_000001.11 | 1 | 831028 | 833722 | Remapped | 1 | ||||||||
| estd201 | essv6773385 | deletion | Sequencing | Paired-end mapping | No | SSM066 | GRCh38.p12 | NC_000001.11 | 1 | 822484 | 822661 | Remapped | 1 | ||||||||
| estd201 | essv6776868 | deletion | Sequencing | Paired-end mapping | No | SSM067 | GRCh38.p12 | NC_000001.11 | 1 | 820931 | 823399 | Remapped | 1 | ||||||||
| estd201 | essv6780792 | deletion | Sequencing | Paired-end mapping | No | SSM068 | GRCh38.p12 | NC_000001.11 | 1 | 820594 | 821093 | Remapped | 1 | ||||||||
| estd201 | essv6784188 | deletion | Sequencing | Paired-end mapping | No | SSM009 | GRCh38.p12 | NC_000001.11 | 1 | 821755 | 823465 | Remapped | 1 | ||||||||
| estd201 | essv6784927 | deletion | Sequencing | Paired-end mapping | No | SSM069 | GRCh38.p12 | NC_000001.11 | 1 | 820930 | 823444 | Remapped | 1 | ||||||||
| estd201 | essv6789068 | deletion | Sequencing | Paired-end mapping | No | SSM070 | GRCh38.p12 | NC_000001.11 | 1 | 820930 | 823458 | Remapped | 1 | ||||||||
| estd201 | essv6793229 | deletion | Sequencing | Paired-end mapping | No | SSM071 | GRCh38.p12 | NC_000001.11 | 1 | 821024 | 823460 | Remapped | 1 | ||||||||
| estd201 | essv6801582 | deletion | Sequencing | Paired-end mapping | No | SSM073 | GRCh38.p12 | NC_000001.11 | 1 | 821118 | 823386 | Remapped | 1 | ||||||||
| estd201 | essv6813123 | deletion | Sequencing | Paired-end mapping | No | SSM077 | GRCh38.p12 | NC_000001.11 | 1 | 820632 | 821085 | Remapped | 1 | ||||||||
| estd201 | essv6821118 | deletion | Sequencing | Paired-end mapping | No | SSM079 | GRCh38.p12 | NC_000001.11 | 1 | 820632 | 821076 | Remapped | 1 | ||||||||
| estd201 | essv6821119 | deletion | Sequencing | Paired-end mapping | No | SSM079 | GRCh38.p12 | NC_000001.11 | 1 | 821171 | 823459 | Remapped | 1 | ||||||||
| estd201 | essv6821120 | deletion | Sequencing | Paired-end mapping | No | SSM079 | GRCh38.p12 | NC_000001.11 | 1 | 822450 | 822580 | Remapped | 1 | ||||||||
| estd201 | essv6828947 | deletion | Sequencing | Paired-end mapping | No | SSM081 | GRCh38.p12 | NC_000001.11 | 1 | 820630 | 821312 | Remapped | 1 | ||||||||
| estd201 | essv6832527 | deletion | Sequencing | Paired-end mapping | No | SSM082 | GRCh38.p12 | NC_000001.11 | 1 | 820627 | 821193 | Remapped | 1 | ||||||||
| estd201 | essv6836112 | deletion | Sequencing | Paired-end mapping | No | SSM083 | GRCh38.p12 | NC_000001.11 | 1 | 820583 | 821315 | Remapped | 1 | ||||||||
| estd201 | essv6836113 | deletion | Sequencing | Paired-end mapping | No | SSM083 | GRCh38.p12 | NC_000001.11 | 1 | 821410 | 822988 | Remapped | 1 | ||||||||
| estd201 | essv6836114 | deletion | Sequencing | Paired-end mapping | No | SSM083 | GRCh38.p12 | NC_000001.11 | 1 | 821410 | 823414 | Remapped | 1 | ||||||||
| estd201 | essv6839905 | deletion | Sequencing | Paired-end mapping | No | SSM084 | GRCh38.p12 | NC_000001.11 | 1 | 820583 | 821253 | Remapped | 1 | ||||||||
| estd201 | essv6843845 | deletion | Sequencing | Paired-end mapping | No | SSM085 | GRCh38.p12 | NC_000001.11 | 1 | 821401 | 823161 | Remapped | 1 | ||||||||
| estd201 | essv6846928 | deletion | Sequencing | Paired-end mapping | No | SSM086 | GRCh38.p12 | NC_000001.11 | 1 | 820921 | 820974 | Remapped | 1 | ||||||||
| estd201 | essv6846929 | deletion | Sequencing | Paired-end mapping | No | SSM086 | GRCh38.p12 | NC_000001.11 | 1 | 820921 | 823459 | Remapped | 1 | ||||||||
| estd201 | essv6846930 | deletion | Sequencing | Paired-end mapping | No | SSM086 | GRCh38.p12 | NC_000001.11 | 1 | 839387 | 839503 | Remapped | 1 | ||||||||
| estd201 | essv6853152 | deletion | Sequencing | Paired-end mapping | No | SSM087 | GRCh38.p12 | NC_000001.11 | 1 | 821402 | 823464 | Remapped | 1 | ||||||||
| estd201 | essv6853155 | deletion | Sequencing | Paired-end mapping | No | SSM087 | GRCh38.p12 | NC_000001.11 | 1 | 839372 | 839429 | Remapped | 1 | ||||||||
| estd201 | essv6859129 | deletion | Sequencing | Paired-end mapping | No | SSM088 | GRCh38.p12 | NC_000001.11 | 1 | 820960 | 821052 | Remapped | 1 | ||||||||
| estd201 | essv6859130 | deletion | Sequencing | Paired-end mapping | No | SSM088 | GRCh38.p12 | NC_000001.11 | 1 | 821055 | 823462 | Remapped | 1 | ||||||||
| estd201 | essv6859132 | deletion | Sequencing | Paired-end mapping | No | SSM088 | GRCh38.p12 | NC_000001.11 | 1 | 822410 | 822896 | Remapped | 1 | ||||||||
| estd201 | essv6871679 | deletion | Sequencing | Paired-end mapping | No | SSM091 | GRCh38.p12 | NC_000001.11 | 1 | 821195 | 822945 | Remapped | 1 | ||||||||
| estd201 | essv6876308 | deletion | Sequencing | Paired-end mapping | No | SSM012 | GRCh38.p12 | NC_000001.11 | 1 | 820340 | 821306 | Remapped | 1 | ||||||||
| estd201 | essv6876319 | deletion | Sequencing | Paired-end mapping | No | SSM012 | GRCh38.p12 | NC_000001.11 | 1 | 839387 | 839543 | Remapped | 1 | ||||||||
| estd201 | essv6877639 | deletion | Sequencing | Paired-end mapping | No | SSM093 | GRCh38.p12 | NC_000001.11 | 1 | 821402 | 823461 | Remapped | 1 | ||||||||
| estd201 | essv6880393 | deletion | Sequencing | Paired-end mapping | No | SSM094 | GRCh38.p12 | NC_000001.11 | 1 | 821173 | 823388 | Remapped | 1 | ||||||||
| estd201 | essv6883219 | deletion | Sequencing | Paired-end mapping | No | SSM095 | GRCh38.p12 | NC_000001.11 | 1 | 821471 | 822878 | Remapped | 1 | ||||||||
| estd201 | essv6885945 | deletion | Sequencing | Paired-end mapping | No | SSM096 | GRCh38.p12 | NC_000001.11 | 1 | 821140 | 822989 | Remapped | 1 | ||||||||
| estd201 | essv6892259 | deletion | Sequencing | Paired-end mapping | No | SSM098 | GRCh38.p12 | NC_000001.11 | 1 | 820635 | 821306 | Remapped | 1 | ||||||||
| estd201 | essv6892260 | deletion | Sequencing | Paired-end mapping | No | SSM098 | GRCh38.p12 | NC_000001.11 | 1 | 821401 | 822952 | Remapped | 1 | ||||||||
| estd201 | essv6892261 | deletion | Sequencing | Paired-end mapping | No | SSM098 | GRCh38.p12 | NC_000001.11 | 1 | 821401 | 823458 | Remapped | 1 | ||||||||
| estd201 | essv6898571 | deletion | Sequencing | Paired-end mapping | No | SSM100 | GRCh38.p12 | NC_000001.11 | 1 | 821196 | 823389 | Remapped | 1 | ||||||||
| estd201 | essv6902471 | deletion | Sequencing | Paired-end mapping | No | SSM013 | GRCh38.p12 | NC_000001.11 | 1 | 820636 | 821107 | Remapped | 1 | ||||||||
| estd201 | essv6909990 | deletion | Sequencing | Paired-end mapping | No | SSM015 | GRCh38.p12 | NC_000001.11 | 1 | 820625 | 821103 | Remapped | 1 | ||||||||
| estd201 | essv6913942 | deletion | Sequencing | Paired-end mapping | No | SSM016 | GRCh38.p12 | NC_000001.11 | 1 | 820627 | 821308 | Remapped | 1 | ||||||||
| estd201 | essv6913943 | deletion | Sequencing | Paired-end mapping | No | SSM016 | GRCh38.p12 | NC_000001.11 | 1 | 821403 | 822942 | Remapped | 1 | ||||||||
| estd201 | essv6913944 | deletion | Sequencing | Paired-end mapping | No | SSM016 | GRCh38.p12 | NC_000001.11 | 1 | 821403 | 823460 | Remapped | 1 | ||||||||
| estd201 | essv6916296 | deletion | Sequencing | Paired-end mapping | No | SSM003 | GRCh38.p12 | NC_000001.11 | 1 | 820868 | 823326 | Remapped | 1 | ||||||||
| estd201 | essv6917364 | deletion | Sequencing | Paired-end mapping | No | SSM017 | GRCh38.p12 | NC_000001.11 | 1 | 820291 | 821401 | Remapped | 1 | ||||||||
| estd201 | essv6917365 | deletion | Sequencing | Paired-end mapping | No | SSM017 | GRCh38.p12 | NC_000001.11 | 1 | 821496 | 823460 | Remapped | 1 | ||||||||
| estd201 | essv6921667 | deletion | Sequencing | Paired-end mapping | No | SSM018 | GRCh38.p12 | NC_000001.11 | 1 | 791345 | 791757 | Remapped | 1 | ||||||||
| estd201 | essv6925638 | deletion | Sequencing | Paired-end mapping | No | SSM019 | GRCh38.p12 | NC_000001.11 | 1 | 820625 | 821309 | Remapped | 1 | ||||||||
| estd201 | essv6929009 | deletion | Sequencing | Paired-end mapping | No | SSM020 | GRCh38.p12 | NC_000001.11 | 1 | 821023 | 823161 | Remapped | 1 | ||||||||
| estd201 | essv6929010 | deletion | Sequencing | Paired-end mapping | No | SSM020 | GRCh38.p12 | NC_000001.11 | 1 | 821023 | 823464 | Remapped | 1 | ||||||||
| estd201 | essv6929011 | deletion | Sequencing | Paired-end mapping | No | SSM020 | GRCh38.p12 | NC_000001.11 | 1 | 839379 | 839532 | Remapped | 1 | ||||||||
| estd201 | essv6937615 | deletion | Sequencing | Paired-end mapping | No | SSM022 | GRCh38.p12 | NC_000001.11 | 1 | 820627 | 821105 | Remapped | 1 | ||||||||
| estd201 | essv6941722 | deletion | Sequencing | Paired-end mapping | No | SSM023 | GRCh38.p12 | NC_000001.11 | 1 | 820628 | 821081 | Remapped | 1 | ||||||||
| estd201 | essv6946436 | deletion | Sequencing | Paired-end mapping | No | SSM024 | GRCh38.p12 | NC_000001.11 | 1 | 820625 | 821311 | Remapped | 1 | ||||||||
| estd201 | essv6946437 | deletion | Sequencing | Paired-end mapping | No | SSM024 | GRCh38.p12 | NC_000001.11 | 1 | 821406 | 823459 | Remapped | 1 | ||||||||
| estd201 | essv6950479 | deletion | Sequencing | Paired-end mapping | No | SSM025 | GRCh38.p12 | NC_000001.11 | 1 | 820588 | 821305 | Remapped | 1 | ||||||||
| estd201 | essv6950480 | deletion | Sequencing | Paired-end mapping | No | SSM025 | GRCh38.p12 | NC_000001.11 | 1 | 853553 | 853822 | Remapped | 1 | ||||||||
| estd201 | essv6954638 | deletion | Sequencing | Paired-end mapping | No | SSM026 | GRCh38.p12 | NC_000001.11 | 1 | 820927 | 823461 | Remapped | 1 | ||||||||
| estd201 | essv6954639 | deletion | Sequencing | Paired-end mapping | No | SSM026 | GRCh38.p12 | NC_000001.11 | 1 | 839486 | 839546 | Remapped | 1 | ||||||||
| estd201 | essv6961443 | deletion | Sequencing | Paired-end mapping | No | SSM027 | GRCh38.p12 | NC_000001.11 | 1 | 791340 | 791754 | Remapped | 1 | ||||||||
| estd201 | essv6961444 | deletion | Sequencing | Paired-end mapping | No | SSM027 | GRCh38.p12 | NC_000001.11 | 1 | 820596 | 821307 | Remapped | 1 | ||||||||
| estd201 | essv6961445 | deletion | Sequencing | Paired-end mapping | No | SSM027 | GRCh38.p12 | NC_000001.11 | 1 | 821402 | 823460 | Remapped | 1 | ||||||||
| estd201 | essv6967856 | deletion | Sequencing | Paired-end mapping | No | SSM028 | GRCh38.p12 | NC_000001.11 | 1 | 820625 | 821106 | Remapped | 1 | ||||||||
| estd201 | essv6967857 | deletion | Sequencing | Paired-end mapping | No | SSM028 | GRCh38.p12 | NC_000001.11 | 1 | 839387 | 839541 | Remapped | 1 | ||||||||
| estd201 | essv6972236 | deletion | Sequencing | Paired-end mapping | No | SSM029 | GRCh38.p12 | NC_000001.11 | 1 | 820631 | 821443 | Remapped | 1 | ||||||||
| estd201 | esv2713915 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 791340 | 791757 | Remapped | 1 | |||||||||||
| estd201 | esv2713916 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 820291 | 821443 | Remapped | 1 | |||||||||||
| estd201 | esv2713917 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 839379 | 839541 | Remapped | 1 | |||||||||||
| estd201 | esv2715028 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 839486 | 839546 | Remapped | 1 | |||||||||||
| estd201 | esv2716139 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 853553 | 853822 | Remapped | 1 | |||||||||||
| estd201 | esv2725027 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 820868 | 823389 | Remapped | 1 | |||||||||||
| estd201 | esv2736138 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 820921 | 820974 | Remapped | 1 | |||||||||||
| estd201 | esv2743807 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 820932 | 821191 | Remapped | 1 | |||||||||||
| estd201 | esv2744918 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 820960 | 821052 | Remapped | 1 | |||||||||||
| estd201 | esv2746029 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 821024 | 823461 | Remapped | 1 | |||||||||||
| estd201 | esv2747140 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 822484 | 822661 | Remapped | 1 | |||||||||||
| estd201 | esv2748251 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 831028 | 833732 | Remapped | 1 | |||||||||||
| estd201 | esv2749362 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 839372 | 839429 | Remapped | 1 |