Variant DetailsVariant: esv3581642 | Internal ID | 18363154 | | Landmark | | | Location Information | | | Cytoband | 15q15.1 | | Allele length | | Assembly | Allele length | | hg38 | 2975 | | hg19 | 2975 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9808463, essv9808418, essv9808453, essv9808411, essv9808429, essv9808448, essv9808413, essv9808456, essv9808419, essv9808447, essv9808431, essv9808409, essv9808402, essv9808459, essv9808397, essv9808432, essv9808443, essv9808396, essv9808460, essv9808445, essv9808415, essv9808398, essv9808416, essv9808464, essv9808404, essv9808465, essv9808393, essv9808387, essv9808392, essv9808451, essv9808468, essv9808390, essv9808439, essv9808457, essv9808401, essv9808467, essv9808395, essv9808408, essv9808412, essv9808430, essv9808458, essv9808428, essv9808452, essv9808440, essv9808441, essv9808442, essv9808400, essv9808438, essv9808434, essv9808405, essv9808427, essv9808437, essv9808449, essv9808420, essv9808424, essv9808391, essv9808461, essv9808450, essv9808423, essv9808462, essv9808446, essv9808414, essv9808425, essv9808426, essv9808417, essv9808435, essv9808436, essv9808394, essv9808406, essv9808407, essv9808454, essv9808403, essv9808389 | | Samples | 401799DP, 401636WR, 400911GA, 401110GJ, 400364SS, 401465TB, 400987FB, 401819BS, 401385BB, 401503MJ, 401498HH, 401518VK, 401966SR, 400277LM, 400225CJ, 401019MP, 400893ZE, 401281BP, 401297KC, 402028BD, 401263HS, 401695BT, 400631SJ, 401006ES, 401401BA, 401184MM, 401664SD, 400353ML, 401495NR, 401198TI, 401818PC, 400333CC, 400729HC, 401646MC, 400413FJ, 401505WI, 400352CA, 401655DC, 401499JR, 401274PA, 402033WD, 401617KM, 401357MH, 401278DM, 401862AN, 401968HL, 400829MR, 401475MK, 401513KC, 401630MK, 401504RJ, 401443JK, 401493HC, 400211BJ, 401981GF, 402074RR, 401587RC, 401677MM, 400837HN, 400671PP, 400770MA, 400712GC, 400156WT, 401268PS, 400246MG, 400769SL, 400312CR, 401861GG, 401166WJ, 401250WD, 400108BJ, 400581VJ, 401180GR | | Known Genes | PAK6 | | 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) | esv3581642
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 73 | | Observed Complex | 0 | | Frequency | n/a |
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