A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12n64



Internal ID22780921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55655110..55828837hg38UCSC Ensembl
chr11:55422586..55596313hg19UCSC Ensembl
chr11:55179162..55352889hg18UCSC Ensembl
chr11:55179162..55352889hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38173728
hg19173728
hg18173728
hg17173728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818832, nsv818834
SamplesNA19239, NA19094, NA19093, NA18854, NA18852
Known GenesOR4C6, OR5D13, OR5D14, OR5D18, OR5L1, OR5L2
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)dgv12n64
Frequency
Sample Size112
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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