Variant DetailsVariant: dgv2491e212 | Internal ID | 22785418 | | Landmark | | | Location Information | | | Cytoband | Xq27.1 | | Allele length | | Assembly | Allele length | | hg38 | 3020 | | hg19 | 3020 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3577436, esv3577437, esv3577431, esv3577433, esv3577432, esv3577435, esv3577434 | | Samples | 401362ME, 401191MI, 400911GA, 400075MR, 401033DJ, 401806DL, 400308SP, 401420PJ, 401366WD, 400364SS, 401292ER, 400618GC, 401221LD, 401196CR, 400739SS, 401640WJ, 400619MP, 400789KV, 401385BB, 401769CR, 400377WJ, 400876OG, 401460LW, 400140WM, 400574MA, 400230TB, 401742KB, 400272AE, 400995MS, 400141CC, 401783BD, 401457WK, 400730SH, 401845MJ, 400834SS, 400625FT, 400553PP, 401721CP, 401096SL, 401733CG, 400199SA, 400453LN, 400620MT, 401936BA, 401390DG, 401019MP, 400131CM, 400155CW, 401990PR, 401634CH, 400298ME, 400827MM, 401808PS, 400482MD, 402064DC, 401780BB, 401239PR, 400882DD, 400337HG, 401908YM, 400134WK, 401401BA, 401184MM, 400307HW, 401766MR, 401664SD, 400817MB, 401838EN, 401596PJ, 401495NR, 401994BD, 401133JG, 400717BD, 402056KD, 401029SD, 401353BC, 401234MB, 400198MD, 401013GJ, 400843FL, 401448BJ, 401977ES, 400352CA, 400515ZG, 401870FB, 400040CN, 401589HP, 401913GT, 402052ZA, 401119DK, 401210PB, 401526WB, 401519SA, 400829MR, 401419SW, 401084BD, 400724CD, 400686BM, 401478RD, 400854SG, 400639RP, 401889FR, 401067BD, 400603CJ, 401919MD, 400422PN, 401369GR, 401200BD, 401874DJ, 401778CB, 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) | dgv2491e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 142 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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