A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv401e212



Internal ID22783328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88550304..88553269hg38UCSC Ensembl
chr11:88283472..88286437hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382966
hg192966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579797, esv3579798, esv3579796, esv3579795
Samples401706BJ, 401640WJ, 400132HN, 400101EH, 400468OB, 401460LW, 401249TP, 401582GG, 401551MB, 400893ZE, 400827MM, 400343BD, 401780BB, 402065BG, 400073HT, 401401BA, 400348DK, 401155ML, 401133JG, 400107MJ, 401050GS, 400663MD, 401939GD, 401623SN, 401357MH, 401119DK, 401879HJ, 400248JO, 401711WS, 400422PN, 401112LG, 400451kh, 401365DJ, 401413RG, 401567BD, 400271SR, 401681MS, 401458RT, 400164SS
Known GenesGRM5
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)dgv401e212
Frequency
Sample Size873
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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