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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
estd21 | essv84178 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000016.9 | 16 | 15048676 | 15089918 | Remapped | 1 | ||||||||
estd21 | essv84178 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000016.9 | 16 | 15048676 | 15089918 | Remapped | 1 | ||||||||
estd21 | essv84178 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000016.10 | 16 | 14954819 | 14996061 | Remapped | 1 | ||||||||
estd21 | essv84179 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 248727899 | 248808428 | Remapped | 1 | ||||||||
estd21 | essv84179 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 248727899 | 248808428 | Remapped | 1 | ||||||||
estd21 | essv84179 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000001.11 | 1 | 248564598 | 248645127 | Remapped | 1 | ||||||||
estd21 | essv84179 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | NCBI36 (hg18) | NC_000001.9 | 1 | 246794522 | 246875051 | Submitted genomic | |||||||||
estd21 | essv84180 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000005.9 | 5 | 692859 | 773103 | Remapped | 1 | ||||||||
estd21 | essv84180 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000005.9 | 5 | 692859 | 773103 | Remapped | 1 | ||||||||
estd21 | essv84180 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000005.10 | 5 | 692744 | 772988 | Remapped | 1 | ||||||||
estd21 | essv84181 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000003.11 | 3 | 162514534 | 162619141 | Remapped | 1 | ||||||||
estd21 | essv84181 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000003.11 | 3 | 162514534 | 162619141 | Remapped | 1 | ||||||||
estd21 | essv84181 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000003.12 | 3 | 162796746 | 162901353 | Remapped | 1 | ||||||||
estd21 | essv84182 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000014.8 | 14 | 22565588 | 22942482 | Remapped | 1 | ||||||||
estd21 | essv84182 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000014.8 | 14 | 22565588 | 22942482 | Remapped | 1 | ||||||||
estd21 | essv84182 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000014.9 | 14 | 22097311 | 22473492 | Remapped | 0.99811 | ||||||||
estd21 | essv84183 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000011.9 | 11 | 55368154 | 55450788 | Remapped | 1 | ||||||||
estd21 | essv84183 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000011.9 | 11 | 55368154 | 55450788 | Remapped | 1 | ||||||||
estd21 | essv84183 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000011.10 | 11 | 55600678 | 55683312 | Remapped | 1 | ||||||||
estd21 | essv84184 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000014.8 | 14 | 74001651 | 74044429 | Remapped | 1 | ||||||||
estd21 | essv84184 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000014.8 | 14 | 74001651 | 74044429 | Remapped | 1 | ||||||||
estd21 | essv84184 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000014.9 | 14 | 73534947 | 73577725 | Remapped | 1 | ||||||||
estd21 | essv84185 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000007.13 | 7 | 38315240 | 38352444 | Remapped | 1 | ||||||||
estd21 | essv84185 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000007.13 | 7 | 38315240 | 38352444 | Remapped | 1 | ||||||||
estd21 | essv84185 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000007.14 | 7 | 38275639 | 38312843 | Remapped | 1 | ||||||||
estd21 | essv84186 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000022.10 | 22 | 39359112 | 39385485 | Remapped | 1 | ||||||||
estd21 | essv84186 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000022.10 | 22 | 39359112 | 39385485 | Remapped | 1 | ||||||||
estd21 | essv84186 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000022.11 | 22 | 38963107 | 38989480 | Remapped | 1 | ||||||||
estd21 | essv84187 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 16948127 | 17257997 | Remapped | 1 | ||||||||
estd21 | essv84187 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 16948127 | 17257997 | Remapped | 1 | ||||||||
estd21 | essv84187 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000001.11 | 1 | 16621632 | 16931502 | Remapped | 1 | ||||||||
estd21 | essv84187 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | NCBI36 (hg18) | NC_000001.9 | 1 | 16820714 | 17130584 | Submitted genomic | |||||||||
estd21 | essv84188 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 25609449 | 25663551 | Remapped | 1 | ||||||||
estd21 | essv84188 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 25609449 | 25663551 | Remapped | 1 | ||||||||
estd21 | essv84188 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000001.11 | 1 | 25282958 | 25337060 | Remapped | 1 | ||||||||
estd21 | essv84188 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | NCBI36 (hg18) | NC_000001.9 | 1 | 25482036 | 25536138 | Submitted genomic | |||||||||
estd21 | essv84189 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000022.10 | 22 | 24347959 | 24395353 | Remapped | 1 | ||||||||
estd21 | essv84189 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000022.10 | 22 | 24347959 | 24395353 | Remapped | 1 | ||||||||
estd21 | essv84190 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000017.10 | 17 | 44176718 | 44289261 | Remapped | 0.91132 | ||||||||
estd21 | essv84190 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000017.10 | 17 | 44176718 | 44289261 | Remapped | 0.91132 | ||||||||
estd21 | essv84190 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000017.11 | 17 | 46088360 | 46211895 | Remapped | 1.00033 | ||||||||
estd21 | essv84191 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000016.9 | 16 | 32051472 | 33631581 | Remapped | 1 | ||||||||
estd21 | essv84191 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000016.9 | 16 | 32051472 | 33631581 | Remapped | 1 | ||||||||
estd21 | essv84191 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000016.10 | 16 | 32040151 | 33829114 | Remapped | 1.13218 | ||||||||
estd21 | essv84192 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000002.11 | 2 | 242953547 | 243052365 | Remapped | 1 | ||||||||
estd21 | essv84192 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000002.11 | 2 | 242953547 | 243052365 | Remapped | 1 | ||||||||
estd21 | essv84192 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000002.12 | 2 | 242011396 | 242110214 | Remapped | 1 | ||||||||
estd21 | essv84193 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000004.11 | 4 | 70153865 | 70265015 | Remapped | 1 | ||||||||
estd21 | essv84193 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000004.11 | 4 | 70153865 | 70265015 | Remapped | 1 | ||||||||
estd21 | essv84193 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000004.12 | 4 | 69288147 | 69399297 | Remapped | 1 | ||||||||
estd21 | essv84194 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000014.8 | 14 | 106011715 | 106215478 | Remapped | 1 | ||||||||
estd21 | essv84194 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000014.8 | 14 | 106011715 | 106215478 | Remapped | 1 | ||||||||
estd21 | essv84194 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000014.9 | 14 | 105545378 | 105749141 | Remapped | 1 | ||||||||
estd21 | essv84195 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000015.9 | 15 | 20550037 | 22141158 | Remapped | 2.42783 | ||||||||
estd21 | essv84195 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000015.9 | 15 | 20550037 | 22141158 | Remapped | 2.42783 | ||||||||
estd21 | essv84195 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000015.10 | 15 | 20344784 | 21498353 | Remapped | 1.76019 | ||||||||
estd21 | essv84196 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 152556449 | 152586281 | Remapped | 1 | ||||||||
estd21 | essv84196 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 152556449 | 152586281 | Remapped | 1 | ||||||||
estd21 | essv84196 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000001.11 | 1 | 152583973 | 152613805 | Remapped | 1 | ||||||||
estd21 | essv84196 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | NCBI36 (hg18) | NC_000001.9 | 1 | 150823073 | 150852905 | Submitted genomic | |||||||||
estd21 | essv84197 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000006.11 | 6 | 32478153 | 32521929 | Remapped | 1 | ||||||||
estd21 | essv84197 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000006.11 | 6 | 32478153 | 32521929 | Remapped | 1 | ||||||||
estd21 | essv84197 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000006.12 | 6 | 32510376 | 32554152 | Remapped | 1 | ||||||||
estd21 | essv84198 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000009.11 | 9 | 124331557 | 124381893 | Remapped | 1 | ||||||||
estd21 | essv84198 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000009.11 | 9 | 124331557 | 124381893 | Remapped | 1 | ||||||||
estd21 | essv84198 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000009.12 | 9 | 121569278 | 121619614 | Remapped | 1 | ||||||||
estd21 | essv84199 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000004.11 | 4 | 69375140 | 69483277 | Remapped | 1 | ||||||||
estd21 | essv84199 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000004.11 | 4 | 69375140 | 69483277 | Remapped | 1 | ||||||||
estd21 | essv84199 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000004.12 | 4 | 68509422 | 68617559 | Remapped | 1 | ||||||||
estd21 | essv84200 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 196738897 | 196898664 | Remapped | 1 | ||||||||
estd21 | essv84200 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh37.p13 | NC_000001.10 | 1 | 196738897 | 196898664 | Remapped | 1 | ||||||||
estd21 | essv84200 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | GRCh38.p12 | NC_000001.11 | 1 | 196769767 | 196929534 | Remapped | 1 | ||||||||
estd21 | essv84200 | copy number gain | Oligo aCGH | Probe signal intensity | Yes | WATSON | NCBI36 (hg18) | NC_000001.9 | 1 | 195005520 | 195165287 | Submitted genomic | |||||||||
estd21 | esv29939 | copy number variation | Yes | GRCh37.p13 | NC_000016.9 | 16 | 15048676 | 15089918 | Remapped | 1 | |||||||||||
estd21 | esv29939 | copy number variation | Yes | GRCh37.p13 | NC_000016.9 | 16 | 15048676 | 15089918 | Remapped | 1 | |||||||||||
estd21 | esv29939 | copy number variation | Yes | GRCh38.p12 | NC_000016.10 | 16 | 14954819 | 14996061 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 248727899 | 248808428 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | GRCh37.p13 | NC_000001.10 | 1 | 248727899 | 248808428 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 248564598 | 248645127 | Remapped | 1 | |||||||||||
estd21 | esv29940 | copy number variation | Yes | NCBI36 (hg18) | NC_000001.9 | 1 | 246794522 | 246875051 | Submitted genomic | ||||||||||||
estd21 | esv29941 | copy number variation | Yes | GRCh37.p13 | NC_000005.9 | 5 | 692859 | 773103 | Remapped | 1 | |||||||||||
estd21 | esv29941 | copy number variation | Yes | GRCh37.p13 | NC_000005.9 | 5 | 692859 | 773103 | Remapped | 1 | |||||||||||
estd21 | esv29941 | copy number variation | Yes | GRCh38.p12 | NC_000005.10 | 5 | 692744 | 772988 | Remapped | 1 | |||||||||||
estd21 | esv29942 | copy number variation | Yes | GRCh37.p13 | NC_000003.11 | 3 | 162514534 | 162619141 | Remapped | 1 | |||||||||||
estd21 | esv29942 | copy number variation | Yes | GRCh37.p13 | NC_000003.11 | 3 | 162514534 | 162619141 | Remapped | 1 | |||||||||||
estd21 | esv29942 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 162796746 | 162901353 | Remapped | 1 | |||||||||||
estd21 | esv29943 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 22565588 | 22942482 | Remapped | 1 | |||||||||||
estd21 | esv29943 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 22565588 | 22942482 | Remapped | 1 | |||||||||||
estd21 | esv29943 | copy number variation | Yes | GRCh38.p12 | NC_000014.9 | 14 | 22097311 | 22473492 | Remapped | 0.99811 | |||||||||||
estd21 | esv29944 | copy number variation | Yes | GRCh37.p13 | NC_000011.9 | 11 | 55368154 | 55450788 | Remapped | 1 | |||||||||||
estd21 | esv29944 | copy number variation | Yes | GRCh37.p13 | NC_000011.9 | 11 | 55368154 | 55450788 | Remapped | 1 | |||||||||||
estd21 | esv29944 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 55600678 | 55683312 | Remapped | 1 | |||||||||||
estd21 | esv29945 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 74001651 | 74044429 | Remapped | 1 | |||||||||||
estd21 | esv29945 | copy number variation | Yes | GRCh37.p13 | NC_000014.8 | 14 | 74001651 | 74044429 | Remapped | 1 | |||||||||||
estd21 | esv29945 | copy number variation | Yes | GRCh38.p12 | NC_000014.9 | 14 | 73534947 | 73577725 | Remapped | 1 | |||||||||||
estd21 | esv29946 | copy number variation | Yes | GRCh37.p13 | NC_000007.13 | 7 | 38315240 | 38352444 | Remapped | 1 | |||||||||||
estd21 | esv29946 | copy number variation | Yes | GRCh37.p13 | NC_000007.13 | 7 | 38315240 | 38352444 | Remapped | 1 | |||||||||||
estd21 | esv29946 | copy number variation | Yes | GRCh38.p12 | NC_000007.14 | 7 | 38275639 | 38312843 | Remapped | 1 | |||||||||||
estd21 | esv29947 | copy number variation | Yes | GRCh37.p13 | NC_000022.10 | 22 | 39359112 | 39385485 | Remapped | 1 | |||||||||||
estd21 | esv29947 | copy number variation | Yes | GRCh37.p13 | NC_000022.10 | 22 | 39359112 | 39385485 | Remapped | 1 |