Variant DetailsVariant: esv3574905 | Internal ID | 18356417 | | Landmark | | | Location Information | | | Cytoband | Xq27.3 | | Allele length | | Assembly | Allele length | | hg38 | 1825 | | hg19 | 1825 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2506e212 | | Supporting Variants | essv9833013, essv9833042, essv9833008, essv9833022, essv9833059, essv9833025, essv9833009, essv9832996, essv9832995, essv9833000, essv9832985, essv9833058, essv9832989, essv9833031, essv9833020, essv9832994, essv9833002, essv9833050, essv9833036, essv9833019, essv9833047, essv9833038, essv9833028, essv9833007, essv9833040, essv9832998, essv9833006, essv9833027, essv9833001, essv9833051, essv9833017, essv9833003, essv9832987, essv9833029, essv9833033, essv9833045, essv9833049, essv9833014, essv9833015, essv9833011, essv9832992, essv9833053, essv9833005, essv9832980, essv9832983, essv9833039, essv9833035, essv9832979, essv9833030, essv9833041, essv9833024, essv9833046, essv9833018, essv9832990, essv9832997, essv9832986, essv9832982, essv9833037, essv9833057, essv9833034, essv9833004, essv9833026, essv9832978, essv9832984, essv9833056, essv9832993, essv9833052, essv9833055, essv9833048, essv9833023, essv9833044, essv9833016, essv9832981, essv9833012, essv9832991 | | Samples | 401102RD, 400801HS, 401021SC, 400316SL, 401806DL, 400308SP, 401420PJ, 401734PG, 400594VJ, 400512LR, 400626FC, 400595CP, 401093VL, 401556KR, 400643LD, 400453LN, 401500OM, 401906DT, 401926MR, 401792KR, 400743LS, 401687LR, 400337HG, 400073HT, 401165SB, 400307HW, 400385LJ, 400333CC, 400579HJ, 401997HB, 401393JW, 401192MJ, 400352CA, 400302HW, 400007RG, 400825TW, 400416KA, 401655DC, 401125LM, 401717LP, 401853WR, 400994HJ, 401864CV, 401771OS, 401762SD, 400124FR, 401346FJ, 400686BM, 401414CR, 400854SG, 400211BJ, 400603CJ, 401875FG, 400248JO, 400999HR, 401874DJ, 401696CG, 400518MS, 400788PV, 400444MM, 400624RJ, 401595BL, 401496SL, 400863SS, 400769SL, 401240ML, 401215MJ, 401817MC, 401912HD, 401458RT, 401932GN, 400300SD, 400540BM, 402024BB, 400942HR | | Known Genes | FMR1, FMR1-AS1 | | 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) | esv3574905
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 75 | | Observed Complex | 0 | | Frequency | n/a |
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