A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2057e212



Internal ID20150513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18953127..18956552hg38UCSC Ensembl
chr8:18810637..18814062hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg383426
hg193426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572615, esv3572614
Samples400520FM, 401580CA, 401064FR, 401806DL, 401221LD, 400300SD, 400782IE, 400534ME, 400908PJ, 401739BJ, 401495NR, 401358VP, 400677HD, 401733CG, 401318AV, 400987FB, 401841OB, 401640WJ, 400879DS, 4000046CJ, 401836SI, 401414CR, 400106PC, 401801LA, 401030GI, 400171BJ, 400110MD, 401354KM, 400277LM, 400983PV, 400441GS, 400788PV, 401428LD, 401818PC, 401326LI, 400625FT, 401783BD, 400967PK, 400579HJ, 401210PB, 401952UH, 401487FW, 400460DM, 400897MD, 401376RD, 401725MR, 401864CV, 402023EC, 401386WA, 400352CA, 401239PR, 401419SW, 400733SW, 401152MV, 400583HS, 402074RR, 401773AM, 401013GJ, 401873BK, 400600DP, 401494PD, 400329HJ, 400356MC, 401550SP, 401825TH, 401968HL, 401646MC, 401596PJ, 400728PB, 401347DH, 400204SC, 401820SD, 400785AK, 400177CG, 401618HR, 401496SL, 402048WB, 400236DB, 400323AA, 401700BN, 401672FD, 401817MC, 400825TW, 401426WD, 401939GD, 400022WA, 401372RR, 400582WS, 400344DR, 400013TA, 400177SJ, 401437MJ, 400206SC, 400769SL, 400124FR, 401860TJ, 400970VE, 401362ME, 401706BJ, 401831TW, 400658BW, 401185LE, 401234MB, 400328LM, 400338SR, 402052ZA, 400079AP, 400127MD, 401113MJ, 400588BE, 400064WJ, 401268PS, 401879HJ, 401620BA, 401513KC
Known GenesPSD3
MethodSNP array
AnalysisWe 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.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv2057e212
Frequency
Sample Size873
Observed Gain0
Observed Loss115
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer