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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd59 | essv8691751 | duplication | Sequencing | Read depth | Yes | NA12878 | GRCh38.p12 | NC_000001.11 | 1 | 10189 | 11189 | 12189 | 35287 | 36287 | 37287 | Remapped | 1 | ||||
estd59 | essv8691752 | duplication | Sequencing | Read depth | Yes | NA19239 | GRCh38.p12 | NC_000001.11 | 1 | 10189 | 11189 | 12189 | 35787 | 36787 | 37787 | Remapped | 1 | ||||
estd59 | essv8692083 | duplication | Sequencing | Read depth | Yes | NA12892 | GRCh38.p12 | NC_000001.11 | 1 | 27989 | 28989 | 29989 | 34387 | 35387 | 36387 | Remapped | 1 | ||||
estd59 | essv8692270 | duplication | Sequencing | Read depth | No | NA19238 | GRCh38.p12 | NC_000001.11 | 1 | 36489 | 37489 | 38489 | 42587 | 43587 | 44587 | Remapped | 1 | ||||
estd59 | essv8692283 | duplication | Sequencing | Read depth | No | NA12878 | GRCh38.p12 | NC_000001.11 | 1 | 37889 | 38889 | 39889 | 39687 | 40687 | 41687 | Remapped | 1 | ||||
estd59 | essv8692302 | duplication | Sequencing | Read depth | Yes | NA19238 | GRCh38.p12 | NC_000001.11 | 1 | 43989 | 44989 | 45989 | 50487 | 51487 | 52487 | Remapped | 1 | ||||
estd59 | essv8692306 | duplication | Sequencing | Read depth | No | NA19239 | GRCh38.p12 | NC_000001.11 | 1 | 44789 | 45789 | 46789 | 45987 | 46987 | 47987 | Remapped | 1 | ||||
estd59 | essv8692307 | duplication | Sequencing | Read depth | Yes | NA19240 | GRCh38.p12 | NC_000001.11 | 1 | 44889 | 45889 | 46889 | 52987 | 53987 | 54987 | Remapped | 1 | ||||
estd59 | essv8692320 | duplication | Sequencing | Read depth | No | NA19239 | GRCh38.p12 | NC_000001.11 | 1 | 46689 | 47689 | 48689 | 50487 | 51487 | 52487 | Remapped | 1 | ||||
estd59 | essv8692333 | duplication | Sequencing | Read depth | Yes | NA19238 | GRCh38.p12 | NC_000001.11 | 1 | 51089 | 52089 | 53089 | 53387 | 54387 | 55387 | Remapped | 1 | ||||
estd59 | essv8726196 | deletion | Sequencing | Paired-end mapping | No | NA12878 | GRCh38.p12 | NC_000001.11 | 1 | 43076 | 43171 | 43246 | 43373 | 43475 | 43563 | Remapped | 1 | ||||
estd59 | essv8740935 | duplication | Sequencing | de novo sequence assembly | No | NA19240 | GRCh38.p12 | NC_000001.11 | 1 | 24260 | 24310 | 24360 | 35339340 | 35339390 | 35339440 | Remapped | 0.99302 | ||||
estd59 | essv9299994 | deletion | Sequencing | Read depth | Yes | NA18542 | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | ||||
estd59 | essv9299995 | deletion | Sequencing | Read depth | Yes | NA18953 | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | ||||
estd59 | essv9299996 | deletion | Sequencing | Read depth | Yes | NA19225 | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | ||||
estd59 | essv9299997 | deletion | Sequencing | Read depth | Yes | NA12249 | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | ||||
estd59 | essv9299998 | deletion | Sequencing | Read depth | No | NA18943 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9299999 | deletion | Sequencing | Read depth | No | NA12044 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9300000 | deletion | Sequencing | Read depth | No | NA19225 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9300001 | deletion | Sequencing | Read depth | No | NA18871 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9300002 | deletion | Sequencing | Read depth | No | NA18566 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9300005 | deletion | Sequencing | Read depth | No | NA18522 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9300006 | deletion | Sequencing | Read depth | No | NA18912 | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | ||||
estd59 | essv9300007 | deletion | Sequencing | Read depth | No | NA18916 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300008 | deletion | Sequencing | Read depth | No | NA12750 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300009 | deletion | Sequencing | Read depth | No | NA12044 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300010 | deletion | Sequencing | Read depth | No | NA12003 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300011 | deletion | Sequencing | Read depth | No | NA18511 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300012 | deletion | Sequencing | Read depth | No | NA12043 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300013 | deletion | Sequencing | Read depth | No | NA19099 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300014 | deletion | Sequencing | Read depth | No | NA18952 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300016 | deletion | Sequencing | Read depth | No | NA18558 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300017 | deletion | Sequencing | Read depth | No | NA18942 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300018 | deletion | Sequencing | Read depth | No | NA11919 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300019 | deletion | Sequencing | Read depth | No | NA12749 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300020 | deletion | Sequencing | Read depth | No | NA11881 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300021 | deletion | Sequencing | Read depth | No | NA18566 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300022 | deletion | Sequencing | Read depth | No | NA18980 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300023 | deletion | Sequencing | Read depth | No | NA12878 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300024 | deletion | Sequencing | Read depth | No | NA07347 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300025 | deletion | Sequencing | Read depth | No | NA18561 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300027 | deletion | Sequencing | Read depth | No | NA12891 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300028 | deletion | Sequencing | Read depth | No | NA11931 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300029 | deletion | Sequencing | Read depth | No | NA12414 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300030 | deletion | Sequencing | Read depth | No | NA18909 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300031 | deletion | Sequencing | Read depth | No | NA10851 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300032 | deletion | Sequencing | Read depth | No | NA12892 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300033 | deletion | Sequencing | Read depth | No | NA12776 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300034 | deletion | Sequencing | Read depth | No | NA18961 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300035 | deletion | Sequencing | Read depth | No | NA07000 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300036 | deletion | Sequencing | Read depth | No | NA12249 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300038 | deletion | Sequencing | Read depth | No | NA07346 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300039 | deletion | Sequencing | Read depth | No | NA12751 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300040 | deletion | Sequencing | Read depth | No | NA07357 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300041 | deletion | Sequencing | Read depth | No | NA18871 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300042 | deletion | Sequencing | Read depth | No | NA18517 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300043 | deletion | Sequencing | Read depth | No | NA18912 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300044 | deletion | Sequencing | Read depth | No | NA18951 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300045 | deletion | Sequencing | Read depth | No | NA12156 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300046 | deletion | Sequencing | Read depth | No | NA19108 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300047 | deletion | Sequencing | Read depth | No | NA18944 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300049 | deletion | Sequencing | Read depth | No | NA10847 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300050 | deletion | Sequencing | Read depth | No | NA18542 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300051 | deletion | Sequencing | Read depth | No | NA18564 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300052 | deletion | Sequencing | Read depth | No | NA11920 | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | ||||
estd59 | essv9300065 | deletion | Sequencing | Read depth | Yes | NA18916 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300066 | deletion | Sequencing | Read depth | Yes | NA18498 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300067 | deletion | Sequencing | Read depth | Yes | NA18944 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300068 | deletion | Sequencing | Read depth | Yes | NA18959 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300069 | deletion | Sequencing | Read depth | Yes | NA12249 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300071 | deletion | Sequencing | Read depth | Yes | NA10847 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300072 | deletion | Sequencing | Read depth | Yes | NA18558 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300073 | deletion | Sequencing | Read depth | Yes | NA11931 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300074 | deletion | Sequencing | Read depth | Yes | NA18577 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300075 | deletion | Sequencing | Read depth | Yes | NA18942 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300076 | deletion | Sequencing | Read depth | Yes | NA18576 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300077 | deletion | Sequencing | Read depth | Yes | NA18572 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300078 | deletion | Sequencing | Read depth | Yes | NA12154 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300079 | deletion | Sequencing | Read depth | Yes | NA11994 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300080 | deletion | Sequencing | Read depth | Yes | NA11881 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300082 | deletion | Sequencing | Read depth | Yes | NA18608 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300083 | deletion | Sequencing | Read depth | Yes | NA18566 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | essv9300084 | deletion | Sequencing | Read depth | Yes | NA18507 | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 | ||||
estd59 | esv3325753 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 48089 | 50049 | 50389 | 50687 | 51067 | 52987 | Remapped | 1 | |||||||
estd59 | esv3335281 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 51089 | 52089 | 53089 | 53387 | 54387 | 55387 | Remapped | 1 | |||||||
estd59 | esv3343481 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10189 | 11189 | 12189 | 35787 | 36787 | 37787 | Remapped | 1 | |||||||
estd59 | esv3350737 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 24260 | 24310 | 24360 | 35339340 | 35339390 | 35339440 | Remapped | 0.99302 | |||||||
estd59 | esv3351302 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 43076 | 43171 | 43246 | 43373 | 43475 | 43563 | Remapped | 1 | |||||||
estd59 | esv3364878 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10189 | 11189 | 12189 | 35287 | 36287 | 37287 | Remapped | 1 | |||||||
estd59 | esv3368735 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 43989 | 44989 | 45989 | 50487 | 51487 | 52487 | Remapped | 1 | |||||||
estd59 | esv3369077 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 44789 | 45789 | 46789 | 45987 | 46987 | 47987 | Remapped | 1 | |||||||
estd59 | esv3411655 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 36489 | 37489 | 38489 | 42587 | 43587 | 44587 | Remapped | 1 | |||||||
estd59 | esv3424077 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 53089 | 55049 | 55389 | 55387 | 55767 | 57687 | Remapped | 1 | |||||||
estd59 | esv3428396 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 44889 | 45889 | 46889 | 52987 | 53987 | 54987 | Remapped | 1 | |||||||
estd59 | esv3430433 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 37889 | 38889 | 39889 | 39687 | 40687 | 41687 | Remapped | 1 | |||||||
estd59 | esv3433926 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 27989 | 28989 | 29989 | 34387 | 35387 | 36387 | Remapped | 1 | |||||||
estd59 | esv3439865 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 46689 | 47689 | 48689 | 50487 | 51487 | 52487 | Remapped | 1 | |||||||
estd59 | esv3452817 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | |||||||
estd59 | esv3452818 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 38989 | 40949 | 41289 | 41987 | 42367 | 44287 | Remapped | 1 | |||||||
estd59 | esv3452820 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 54389 | 56349 | 56689 | 56787 | 57167 | 59087 | Remapped | 1 |