Variant DetailsVariant: dgv2182e212 | Internal ID | 22785109 | | Landmark | | | Location Information | | | Cytoband | 9q32 | | Allele length | | Assembly | Allele length | | hg38 | 8087 | | hg19 | 8087 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3576697, esv3576698, esv3576692, esv3576691 | | Samples | 401749DJ, 401420PJ, 400439IM, 400889CM, 400468OB, 401911FL, 401742KB, 400956AM, 401299ST, 401079HJ, 400506GN, 401719RL, 400625FT, 400077EB, 400199SA, 401468RL, 401674DD, 400340CD, 401556KR, 400948EV, 400493KH, 400953MR, 400245SJ, 400379BB, 401136LB, 401551MB, 401924ST, 400606HW, 401860TJ, 401935TM, 400134WK, 400231LP, 400356MC, 400717BD, 401801LA, 401234MB, 400929MM, 401764JJ, 400763BT, 401726LW, 400416KA, 400974PS, 401091HS, 401717LP, 401519SA, 401618HR, 401419SW, 401762SD, 401619BT, 401311GL, 400006DK, 400524NJ, 400278PD, 40050SB, 400444MM, 400451kh, 401535RJ, 400454RE, 400168HC, 400103BN, 401881TJ, 400069CN, 401288LD, 401413RG, 401152MV, 401809FU, 401543DC, 401358VP, 400525MR, 400130HA, 401607LL, 400315DA, 401177SL, 401040KM, 400213DB, 400178RH, 401053MF, 401510DG, 401517PR, 400152MR, 400138LA, 401180GR | | Known Genes | ORM1, ORM2 | | 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) | dgv2182e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 82 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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