Variant DetailsVariant: esv3570211 | Internal ID | 18698409 | | Landmark | | | Location Information | | | Cytoband | 5q14.1 | | Allele length | | Assembly | Allele length | | hg38 | 1588 | | hg19 | 1588 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1616e212 | | Supporting Variants | essv9775336, essv9775304, essv9775351, essv9775318, essv9775340, essv9775292, essv9775328, essv9775308, essv9775302, essv9775312, essv9775334, essv9775345, essv9775326, essv9775289, essv9775293, essv9775294, essv9775290, essv9775327, essv9775343, essv9775332, essv9775319, essv9775321, essv9775337, essv9775324, essv9775323, essv9775330, essv9775338, essv9775297, essv9775329, essv9775286, essv9775314, essv9775291, essv9775285, essv9775349, essv9775306, essv9775301, essv9775350, essv9775315, essv9775316, essv9775305, essv9775300, essv9775320, essv9775307, essv9775347, essv9775331, essv9775325, essv9775339, essv9775298, essv9775348, essv9775342, essv9775335, essv9775295, essv9775313, essv9775303, essv9775341, essv9775296, essv9775287, essv9775346, essv9775317, essv9775309 | | Samples | 401420PJ, 401162TM, 400880TM, 400618GC, 401196CR, 400821FE, 400634MP, 401275SJ, 401769CR, 400140WM, 401911FL, 401321CE, 400655WB, 401457WK, 401949MN, 401603HH, 401824MM, 400059SV, 401602PR, 401368WR, 401390DG, 400298ME, 401263HS, 401687LR, 400600DP, 400121PL, 400292LP, 401038LN, 401596PJ, 401855RE, 400733SW, 401013GJ, 400411TG, 401175FA, 401437MJ, 400207HN, 400496BL, 400994HJ, 400043HC, 400844GP, 400050RL, 401981GF, 400869BK, 401711WS, 400258BC, 401200BD, 400458LS, 401898DS, 401496SL, 400722OM, 401277RA, 401288LD, 401010HT, 400328LM, 401166WJ, 402073LQ, 401912HD, 400291VJ, 401517PR, 401993HM | | Known Genes | LHFPL2 | | 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) | esv3570211
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 60 | | Observed Complex | 0 | | Frequency | n/a |
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