Variant DetailsVariant: esv3574721 | Internal ID | 18356233 | | Landmark | | | Location Information | | | Cytoband | Xq26.3 | | Allele length | | Assembly | Allele length | | hg38 | 6789 | | hg19 | 6789 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2476e212 | | Supporting Variants | essv9832061, essv9832059, essv9832044, essv9832042, essv9832048, essv9832027, essv9832041, essv9832064, essv9832036, essv9832070, essv9832013, essv9832078, essv9832040, essv9832024, essv9832057, essv9832017, essv9832004, essv9832077, essv9832072, essv9832058, essv9832011, essv9832030, essv9832046, essv9832035, essv9832025, essv9832074, essv9832069, essv9832038, essv9831994, essv9832000, essv9831989, essv9832068, essv9832039, essv9832020, essv9832060, essv9832052, essv9832081, essv9832033, essv9832050, essv9832045, essv9832003, essv9832006, essv9832005, essv9832028, essv9832009, essv9832080, essv9832034, essv9832053, essv9832056, essv9832037, essv9832079, essv9831993, essv9832015, essv9832075, essv9832082, essv9832063, essv9832062, essv9832031, essv9832019, essv9832049, essv9832026, essv9832051, essv9832022, essv9832071, essv9832067 | | Samples | 401799DP, 401459HF, 400927BD, 400880TM, 400618GC, 401734PG, 400429YF, 401415CB, 400866RR, 401457WK, 401151RJ, 401698SB, 400625FT, 401857VG, 401426WD, 401402EN, 400620MT, 401190WC, 400241CP, 400827MM, 400606HW, 401687LR, 401780BB, 401214BJ, 401133JG, 402056KD, 401801LA, 402029KJ, 401791FG, 400733SW, 401013GJ, 401448BJ, 401732HW, 400038CK, 401437MJ, 401477ST, 401432SB, 401357MH, 401804FG, 401526WB, 401454CD, 401862AN, 401586RS, 400994HJ, 401513KC, 400265LK, 401506LK, 401943KA, 401942MP, 401952UH, 402054BD, 401414CR, 401067BD, 401981GF, 401795SP, 401307VR, 401778CB, 401847RK, 401958MF, 401288LD, 401858TP, 400996MC, 401372RR, 401829FJ, 401882CR | | Known Genes | GPR112 | | 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) | esv3574721
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 65 | | Observed Complex | 0 | | Frequency | n/a |
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