Variant DetailsVariant: esv3567976 | Internal ID | 18696174 | | Landmark | | | Location Information | | | Cytoband | 14q24.1 | | Allele length | | Assembly | Allele length | | hg38 | 8856 | | hg19 | 8856 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv649e212 | | Supporting Variants | essv9806092, essv9806079, essv9806041, essv9806037, essv9806034, essv9806096, essv9806026, essv9806056, essv9806040, essv9806024, essv9806090, essv9806052, essv9806071, essv9806025, essv9806063, essv9806085, essv9806039, essv9806065, essv9806038, essv9806062, essv9806061, essv9806074, essv9806053, essv9806027, essv9806042, essv9806043, essv9806036, essv9806075, essv9806035, essv9806049, essv9806068, essv9806064, essv9806069, essv9806082, essv9806098, essv9806084, essv9806045, essv9806058, essv9806047, essv9806080, essv9806051, essv9806073, essv9806086, essv9806076, essv9806031, essv9806030, essv9806029, essv9806078, essv9806091, essv9806054, essv9806095, essv9806093, essv9806072, essv9806032, essv9806083, essv9806067, essv9806070, essv9806081, essv9806060, essv9806048, essv9806094, essv9806046, essv9806059, essv9806087, essv9806097, essv9806057, essv9806050, essv9806028 | | Samples | 400316SL, 401806DL, 401020DJ, 401162TM, 401221LD, 400926LJ, 401052BM, 400114GR, 400594VJ, 401592NR, 400294HD, 401503MJ, 401074CM, 401742KB, 401498HH, 400272AE, 401427CB, 401442WR, 401195PN, 401824MM, 401258PC, 401064FR, 402064DC, 401780BB, 400882DD, 400337HG, 400307HW, 401596PJ, 401746WW, 401646MC, 400825TW, 402033WD, 401623SN, 400960TN, 401475MK, 401762SD, 400724CD, 401892MJ, 400854SG, 400639RP, 400211BJ, 401067BD, 400248JO, 400362TV, 401580CA, 401369GR, 401922MW, 401677MM, 400542EG, 400053LE, 400601WC, 401012TP, 401861GG, 4000046CJ, 402073LQ, 400271SR, 401817MC, 400785AK, 401932GN, 400291VJ, 400209BS, 401612HB, 401480PG, 401993HM, 401066MM, 400234CA, 401111LH, 400704LC | | 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) | esv3567976
| | Frequency | | Sample Size | 873 | | Observed Gain | 68 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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