A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv63n64



Internal ID20146501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76507072..77008124hg38UCSC Ensembl
chr7:76136389..76637441hg19UCSC Ensembl
chr7:75974325..76475377hg18UCSC Ensembl
chr7:75781040..76282092hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38501053
hg19501053
hg18501053
hg17501053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818518, nsv818520
SamplesNA18994, NA10860, NA11992
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
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)dgv63n64
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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