Variant DetailsVariant: esv3567965 | Internal ID | 18696163 | | Landmark | | | Location Information | | | Cytoband | 14q24.1 | | Allele length | | Assembly | Allele length | | hg38 | 6813 | | hg19 | 6813 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv649e212 | | Supporting Variants | essv9806293, essv9806280, essv9806308, essv9806276, essv9806274, essv9806314, essv9806283, essv9806306, essv9806300, essv9806303, essv9806278, essv9806296, essv9806305, essv9806315, essv9806298, essv9806302, essv9806290, essv9806289, essv9806281, essv9806292, essv9806307, essv9806282, essv9806312, essv9806316, essv9806291, essv9806309, essv9806301, essv9806284, essv9806297, essv9806295, essv9806304, essv9806294, essv9806287, essv9806313, essv9806279, essv9806285, essv9806275, essv9806286 | | Samples | 400599CP, 400063BR, 401292ER, 400554WB, 400336BG, 400083TG, 401719RL, 400899NK, 401390DG, 400528LR, 400298ME, 400374LB, 400113LD, 400107MJ, 400442FE, 401331LJ, 400974PS, 400515ZG, 401591BE, 401939GD, 401834CB, 401913GT, 400496BL, 401930GD, 4000657TM, 401444LD, 400547BS, 401889FR, 40050SB, 401700BN, 401616WP, 400410CD, 401858TP, 401567BD, 400719TM, 400849SH, 400835FD, 401254AE | | Known Genes | RAD51B | | 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) | esv3567965
| | Frequency | | Sample Size | 873 | | Observed Gain | 38 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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