Variant DetailsVariant: esv3577431 | Internal ID | 18705629 | | Landmark | | | Location Information | | | Cytoband | Xq27.1 | | Allele length | | Assembly | Allele length | | hg38 | 2933 | | hg19 | 2933 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2491e212 | | Supporting Variants | essv9832579, essv9832602, essv9832651, essv9832603, essv9832520, essv9832589, essv9832531, essv9832630, essv9832541, essv9832540, essv9832525, essv9832572, essv9832530, essv9832554, essv9832565, essv9832636, essv9832547, essv9832592, essv9832514, essv9832581, essv9832585, essv9832505, essv9832606, essv9832569, essv9832616, essv9832508, essv9832590, essv9832507, essv9832512, essv9832584, essv9832558, essv9832564, essv9832576, essv9832573, essv9832582, essv9832516, essv9832605, essv9832561, essv9832612, essv9832522, essv9832647, essv9832526, essv9832617, essv9832611, essv9832620, essv9832562, essv9832618, essv9832504, essv9832575, essv9832597, essv9832596, essv9832634, essv9832622, essv9832614, essv9832635, essv9832624, essv9832598, essv9832583, essv9832629, essv9832546, essv9832642, essv9832513, essv9832543, essv9832536, essv9832529, essv9832509, essv9832567, essv9832608, essv9832542, essv9832534, essv9832619, essv9832633, essv9832639, essv9832648, essv9832560, essv9832549, essv9832559, essv9832500, essv9832574, essv9832563, essv9832550, essv9832496, essv9832601, essv9832652, essv9832628, essv9832557, essv9832650, essv9832625, essv9832604, essv9832539, essv9832535, essv9832607, essv9832506, essv9832600, essv9832552, essv9832518, essv9832580, essv9832524, essv9832649, essv9832640, essv9832626, essv9832641, essv9832593, essv9832519, essv9832586, essv9832646, essv9832638, essv9832594, essv9832537, essv9832595, essv9832623, essv9832591, essv9832538, essv9832570, essv9832637, essv9832511, essv9832523 | | Samples | 401362ME, 401191MI, 400911GA, 400075MR, 401033DJ, 401806DL, 400308SP, 401420PJ, 401366WD, 400364SS, 401292ER, 400618GC, 401221LD, 400739SS, 400619MP, 400789KV, 401769CR, 400876OG, 401460LW, 400140WM, 400574MA, 400230TB, 400141CC, 401783BD, 401457WK, 400730SH, 401845MJ, 400834SS, 400625FT, 400553PP, 401721CP, 401096SL, 401733CG, 401936BA, 401390DG, 401019MP, 400131CM, 400155CW, 401990PR, 401634CH, 400827MM, 401808PS, 400482MD, 402064DC, 401780BB, 400337HG, 401908YM, 400134WK, 400307HW, 401766MR, 400817MB, 401838EN, 401596PJ, 401495NR, 401994BD, 401133JG, 400717BD, 401353BC, 401234MB, 400198MD, 401013GJ, 400843FL, 401448BJ, 401977ES, 400352CA, 400515ZG, 401870FB, 400040CN, 401589HP, 401913GT, 402052ZA, 401119DK, 401210PB, 401526WB, 401419SW, 401084BD, 400724CD, 401478RD, 400854SG, 400639RP, 401889FR, 401067BD, 401919MD, 401369GR, 401200BD, 401696CG, 400611GG, 400695PH, 401914PR, 400444MM, 401391PJ, 401535RJ, 400158FB, 400845ML, 400156WT, 401277RA, 401025SM, 400677HD, 401288LD, 400501SJ, 401661HD, 401413RG, 400312CR, 400205SP, 401797LS, 401681MS, 401781SL, 400130HA, 401554VN, 402042BJ, 401458RT, 401453OL, 400661AD, 401882CR, 402024BB, 400243CK, 400255CD | | Known Genes | | | 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) | esv3577431
| | Frequency | | Sample Size | 873 | | Observed Gain | 117 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
|
