Variant DetailsVariant: esv3573590 | Internal ID | 18355102 | | Landmark | | | Location Information | | | Cytoband | Xp22.2 | | Allele length | | Assembly | Allele length | | hg38 | 3947 | | hg19 | 3947 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2224e212 | | Supporting Variants | essv9823620, essv9823637, essv9823614, essv9823585, essv9823618, essv9823605, essv9823626, essv9823658, essv9823616, essv9823660, essv9823663, essv9823610, essv9823666, essv9823643, essv9823630, essv9823670, essv9823603, essv9823649, essv9823659, essv9823602, essv9823662, essv9823636, essv9823599, essv9823664, essv9823596, essv9823591, essv9823604, essv9823607, essv9823654, essv9823642, essv9823646, essv9823635, essv9823652, essv9823586, essv9823612, essv9823627, essv9823594, essv9823595, essv9823584, essv9823583, essv9823639, essv9823606, essv9823580, essv9823655, essv9823650, essv9823581, essv9823624, essv9823661, essv9823640, essv9823647, essv9823629, essv9823598, essv9823651, essv9823582, essv9823668, essv9823617, essv9823621, essv9823631, essv9823623, essv9823575, essv9823576, essv9823593, essv9823619, essv9823628, essv9823613, essv9823579, essv9823632, essv9823615, essv9823669, essv9823638, essv9823634, essv9823597, essv9823590, essv9823577, essv9823587, essv9823625, essv9823609, essv9823592, essv9823641, essv9823648 | | Samples | 400920MK, 400075MR, 401706BJ, 401212HJ, 400534ME, 401769CR, 401261HD, 401235IA, 400970VE, 401415CB, 401899MB, 401151RJ, 401845MJ, 400834SS, 401721CP, 401355CD, 400453LN, 401030GI, 400893ZE, 400827MM, 401281BP, 401263HS, 400051MR, 400882DD, 401401BA, 401155ML, 401596PJ, 400564SN, 401495NR, 401532LJ, 401746WW, 401353BC, 401979TB, 401505WI, 401900RJ, 402063WM, 400040CN, 400070PC, 401540NA, 400977SC, 400207HN, 402052ZA, 400496BL, 401804FG, 401185LE, 401968HL, 401618HR, 401879HJ, 401075MN, 400006DK, 401812HG, 401443JK, 400387HE, 400639RP, 400603CJ, 401369GR, 400354TJ, 400450FG, 401514BA, 401922MW, 401359HF, 401535RJ, 401595BL, 400732MA, 401496SL, 401844ZD, 401288LD, 401010HT, 400759FV, 401894PD, 400128MJ, 401438HT, 401314MK, 401571SD, 400859SC, 401105WS, 400213DB, 400021ME, 400243CK, 400152MR | | Known Genes | RAB9A | | 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) | esv3573590
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 80 | | Observed Complex | 0 | | Frequency | n/a |
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