Variant DetailsVariant: esv3580011 | Internal ID | 18361523 | | Landmark | | | Location Information | | | Cytoband | 12p13.33 | | Allele length | | Assembly | Allele length | | hg38 | 7770 | | hg19 | 7770 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv431e212 | | Supporting Variants | essv9799367, essv9799389, essv9799383, essv9799336, essv9799335, essv9799368, essv9799356, essv9799360, essv9799351, essv9799326, essv9799401, essv9799373, essv9799343, essv9799362, essv9799370, essv9799349, essv9799400, essv9799394, essv9799361, essv9799340, essv9799358, essv9799396, essv9799315, essv9799337, essv9799352, essv9799357, essv9799398, essv9799320, essv9799371, essv9799321, essv9799365, essv9799339, essv9799385, essv9799332, essv9799325, essv9799317, essv9799328, essv9799378, essv9799327, essv9799346, essv9799392, essv9799369, essv9799393, essv9799386, essv9799324, essv9799363, essv9799330, essv9799338, essv9799334, essv9799397, essv9799374, essv9799353, essv9799348, essv9799390, essv9799387, essv9799364, essv9799372, essv9799375, essv9799318, essv9799341, essv9799402, essv9799376, essv9799350, essv9799345, essv9799319, essv9799382, essv9799354, essv9799380, essv9799347, essv9799391, essv9799395, essv9799384, essv9799359, essv9799381, essv9799379, essv9799323, essv9799342, essv9799316, essv9799329, essv9799331 | | Samples | 400599CP, 400364SS, 400619MP, 400572PJ, 400336BG, 401769CR, 401077VC, 400101EH, 401460LW, 401074CM, 401415CB, 401841OB, 401403TD, 401927SK, 401698SB, 401468RL, 401674DD, 400797ST, 401536BD, 401022ML, 400493KH, 401253MC, 400241CP, 401936BA, 400528LR, 401975VD, 401926MR, 400675HC, 400743LS, 401687LR, 401869BG, 400600DP, 400022WA, 400583HS, 400338SR, 400836LK, 401994BD, 400341GL, 402056KD, 400729HC, 401791FG, 400218WK, 400002HK, 400413FJ, 400983PV, 400763BT, 401870FB, 401853WR, 400960TN, 401185LE, 401879HJ, 401730MS, 401630MK, 401619BT, 400888MS, 400886MP, 401414CR, 400371GA, 400278PD, 400520FM, 401112LG, 400474GF, 400430KV, 400818BL, 401203MP, 400053LE, 400246MG, 401847RK, 400410CD, 400971MK, 400586RD, 401861GG, 400930MK, 401797LS, 400271SR, 401105WS, 401607LL, 401458RT, 400300SD, 401395OP | | Known Genes | WNK1 | | Method | SNP array | | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3580011
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 80 | | Observed Complex | 0 | | Frequency | n/a |
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