Variant DetailsVariant: esv3568240 | Internal ID | 18696438 | | Landmark | | | Location Information | | | Cytoband | 22q11.21 | | Allele length | | Assembly | Allele length | | hg38 | 3811 | | hg19 | 3811 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1282e212 | | Supporting Variants | essv9820796, essv9820846, essv9820782, essv9820835, essv9820834, essv9820780, essv9820841, essv9820842, essv9820785, essv9820824, essv9820778, essv9820851, essv9820822, essv9820838, essv9820805, essv9820783, essv9820791, essv9820808, essv9820844, essv9820840, essv9820826, essv9820775, essv9820795, essv9820779, essv9820837, essv9820774, essv9820820, essv9820802, essv9820787, essv9820786, essv9820850, essv9820803, essv9820823, essv9820833, essv9820814, essv9820828, essv9820847, essv9820797, essv9820790, essv9820831, essv9820849, essv9820793, essv9820815, essv9820845, essv9820813, essv9820848, essv9820836, essv9820789, essv9820811, essv9820781, essv9820776, essv9820830, essv9820801, essv9820792, essv9820827, essv9820809, essv9820825, essv9820807, essv9820806, essv9820819, essv9820817, essv9820784, essv9820798, essv9820816, essv9820839, essv9820829, essv9820818, essv9820800, essv9820794, essv9820812, essv9820804 | | Samples | 400247CL, 400618GC, 401852SK, 400802DP, 400554WB, 400432VA, 401734PG, 40031BA, 401380OL, 401911FL, 401518VK, 401403TD, 401845MJ, 401195PN, 401602PR, 401426WD, 400643LD, 400453LN, 400658BW, 400558BL, 401190WC, 400441GS, 400827MM, 401842BJ, 400460DM, 401538NS, 400348DK, 400356MC, 401838EN, 400564SN, 401532LJ, 400717BD, 401791FG, 401646MC, 400733SW, 400843FL, 401979TB, 400577MK, 400038CK, 401591BE, 401251WN, 401084TD, 400870KC, 400207HN, 401804FG, 4000657TM, 400050RL, 400361HC, 402054BD, 400242TP, 400248JO, 401919MD, 400474GF, 400329HJ, 400444MM, 401535RJ, 400770MA, 400712GC, 401010HT, 400128MJ, 401438HT, 402048WB, 400586RD, 400205SP, 401143LK, 400106PC, 400833BB, 401612HB, 401510DG, 401111LH, 401068SD | | 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) | esv3568240
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 71 | | Observed Complex | 0 | | Frequency | n/a |
|
|
