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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd198 | essv5395158 | copy number loss | Merging | Merging | Yes | 2323 [21] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395166 | copy number loss | Merging | Merging | Yes | 2307 [6] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395180 | copy number loss | Merging | Merging | Yes | 2306 [5] | GRCh38.p12 | NC_000018.10 | 18 | 5323290 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395204 | copy number loss | Merging | Merging | Yes | 2316 [15] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395211 | copy number loss | Merging | Merging | Yes | 2312 [11] | GRCh38.p12 | NC_000018.10 | 18 | 5323290 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395213 | copy number loss | Merging | Merging | Yes | 2317 [16] | GRCh38.p12 | NC_000018.10 | 18 | 4535801 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395218 | copy number loss | Merging | Merging | Yes | 2344 [39] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395221 | copy number loss | Merging | Merging | Yes | 2347 [42] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395229 | copy number loss | Merging | Merging | Yes | 2322 [20] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395233 | copy number loss | Merging | Merging | Yes | 2333 [30] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395235 | copy number loss | Merging | Merging | Yes | 2325 [23] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395239 | copy number loss | Merging | Merging | Yes | 2317 [16] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395243 | copy number loss | Merging | Merging | Yes | 2325 [23] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395268 | copy number loss | Merging | Merging | Yes | 2378 [56] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395269 | copy number loss | Merging | Merging | Yes | 2311 [10] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395272 | copy number loss | Merging | Merging | Yes | 2342 [37] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395283 | copy number loss | Merging | Merging | Yes | 2338 [34] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395284 | copy number loss | Merging | Merging | Yes | 2307 [6] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395291 | copy number loss | Merging | Merging | Yes | 2245 [62] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395300 | copy number loss | Merging | Merging | Yes | 2315 [14] | GRCh38.p12 | NC_000018.10 | 18 | 4532500 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395303 | copy number loss | Merging | Merging | Yes | 2352 [46] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395306 | copy number loss | Merging | Merging | Yes | 2347 [42] | GRCh38.p12 | NC_000018.10 | 18 | 5209693 | 5210657 | Remapped | 1 | ||||||||
estd198 | essv5395307 | copy number loss | Merging | Merging | Yes | 2350 [44] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395321 | copy number loss | Merging | Merging | Yes | 2336 [32] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395331 | copy number loss | Merging | Merging | Yes | 2333 [30] | GRCh38.p12 | NC_000018.10 | 18 | 1908847 | 1974965 | Remapped | 1 | ||||||||
estd198 | essv5395332 | copy number loss | Merging | Merging | Yes | 2245 [62] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395334 | copy number loss | Merging | Merging | Yes | 2345 [40] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395340 | copy number loss | Merging | Merging | Yes | 2352 [46] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395357 | copy number loss | Merging | Merging | Yes | 2331 [28] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395359 | copy number loss | Merging | Merging | Yes | 2290 [64] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395368 | copy number loss | Merging | Merging | Yes | 2353 [47] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395369 | copy number loss | Merging | Merging | Yes | 2319 [17] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395377 | copy number loss | Merging | Merging | Yes | 2303 [2] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395387 | copy number loss | Merging | Merging | Yes | 2242 [59] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395396 | copy number loss | Merging | Merging | Yes | 2337 [33] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395403 | copy number loss | Merging | Merging | Yes | 2353 [47] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395423 | copy number loss | Merging | Merging | Yes | 2327 [25] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395428 | copy number loss | Merging | Merging | Yes | 2355 [49] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395430 | copy number loss | Merging | Merging | Yes | 2354 [48] | GRCh38.p12 | NC_000018.10 | 18 | 4177454 | 4305905 | Remapped | 1 | ||||||||
estd198 | essv5395434 | copy number loss | Merging | Merging | Yes | 2246 [63] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395436 | copy number loss | Merging | Merging | Yes | 2346 [41] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395440 | copy number loss | Merging | Merging | Yes | 2306 [5] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395441 | copy number loss | Merging | Merging | Yes | 2305 [4] | GRCh38.p12 | NC_000018.10 | 18 | 4535848 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395445 | copy number loss | Merging | Merging | Yes | 2316 [15] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395446 | copy number loss | Merging | Merging | Yes | 2242 [59] | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | ||||||||
estd198 | essv5395455 | copy number loss | Merging | Merging | Yes | 2354 [48] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395473 | copy number loss | Merging | Merging | Yes | 2290 [64] | GRCh38.p12 | NC_000018.10 | 18 | 5209570 | 5210657 | Remapped | 1 | ||||||||
estd198 | essv5395476 | copy number loss | Merging | Merging | Yes | 2343 [38] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395491 | copy number loss | Merging | Merging | Yes | 2320 [18] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | essv5395508 | copy number loss | Merging | Merging | Yes | 2328 [26] | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | ||||||||
estd198 | esv2656068 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656071 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656073 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656081 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656118 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656121 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656136 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656144 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656152 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535801 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656157 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656158 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656181 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4532500 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656186 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656205 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656206 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656212 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 1908847 | 1974965 | Remapped | 1 | |||||||||||
estd198 | esv2656235 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656249 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656251 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5323290 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656253 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5323290 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656255 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656257 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656261 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656267 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656279 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656289 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656290 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656296 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656302 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656305 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4177454 | 4305905 | Remapped | 1 | |||||||||||
estd198 | esv2656314 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656321 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5209570 | 5210657 | Remapped | 1 | |||||||||||
estd198 | esv2656323 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656325 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656328 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656329 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656345 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5209693 | 5210657 | Remapped | 1 | |||||||||||
estd198 | esv2656353 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656355 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656361 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656362 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656369 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656375 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656377 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656384 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535848 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656385 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656414 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 4535746 | 4536648 | Remapped | 1 | |||||||||||
estd198 | esv2656416 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656419 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 | |||||||||||
estd198 | esv2656431 | copy number variation | Yes | GRCh38.p12 | NC_000018.10 | 18 | 5324677 | 5326222 | Remapped | 1 |