Variant DetailsVariant: esv3572248 | Internal ID | 18700446 | | Landmark | | | Location Information | | | Cytoband | 7q35 | | Allele length | | Assembly | Allele length | | hg38 | 4618 | | hg19 | 4618 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1984e212 | | Supporting Variants | essv9785782, essv9785770, essv9785739, essv9785768, essv9785797, essv9785740, essv9785773, essv9785777, essv9785729, essv9785747, essv9785757, essv9785790, essv9785752, essv9785750, essv9785746, essv9785745, essv9785798, essv9785763, essv9785753, essv9785730, essv9785741, essv9785758, essv9785766, essv9785765, essv9785754, essv9785762, essv9785788, essv9785776, essv9785731, essv9785783, essv9785771, essv9785764, essv9785728, essv9785743, essv9785737, essv9785791, essv9785784, essv9785787, essv9785795, essv9785738, essv9785774, essv9785785, essv9785780, essv9785792, essv9785769, essv9785751, essv9785732, essv9785736, essv9785760, essv9785759, essv9785781, essv9785761, essv9785734, essv9785748, essv9785793, essv9785749, essv9785742, essv9785794, essv9785796, essv9785799, essv9785786, essv9785735, essv9785775, essv9785779, essv9785772 | | Samples | 401749DJ, 401366WD, 400569WC, 401852SK, 401769CR, 40031BA, 400294HD, 400068PW, 400655WB, 401442WR, 401845MJ, 400509CJ, 400953MR, 401500OM, 401308LD, 401064FR, 400827MM, 401926MR, 400066MA, 401869BG, 401006ES, 400600DP, 400134WK, 400231LP, 400749VW, 401155ML, 400427SD, 401965TG, 401550SP, 401104DM, 400564SN, 400333CC, 400579HJ, 401791FG, 401620BA, 400983PV, 401691HA, 402063WM, 400791GC, 401494PD, 400496BL, 401652HL, 401519SA, 401879HJ, 400050RL, 401952UH, 400705KK, 402054BD, 401067BD, 400474GF, 401182OC, 400329HJ, 401391PJ, 400454RE, 400458LS, 400722OM, 400156WT, 401844ZD, 401552BK, 401894PD, 401054VM, 401571SD, 400238BB, 401066MM, 401362ME | | Known Genes | CNTNAP2 | | 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) | esv3572248
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 65 | | Observed Complex | 0 | | Frequency | n/a |
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