A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3266n100



Internal ID20154882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54817463..55002289hg38UCSC Ensembl
chr17:52894824..53079650hg19UCSC Ensembl
chr17:50249823..50434649hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38184827
hg19184827
hg18184827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059229, nsv1057513
Samples
Known GenesCOX11, STXBP4, TOM1L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3266n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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