A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv32n64



Internal ID22780941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75136060..75147139hg38UCSC Ensembl
chr2:75363186..75374265hg19UCSC Ensembl
chr2:75216694..75227773hg18UCSC Ensembl
chr2:75274841..75285920hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3811080
hg1911080
hg1811080
hg1711080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818049, nsv818050
SamplesNA10830, NA12154
Known GenesTACR1
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)dgv32n64
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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