A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4748n100



Internal ID20156364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58316064..58399467hg38UCSC Ensembl
chr3:58301791..58385194hg19UCSC Ensembl
chr3:58276831..58360234hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3883404
hg1983404
hg1883404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998936, nsv1007946
Samples
Known GenesPXK, RPP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4748n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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