A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5193n100



Internal ID22791280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39757984..39810399hg38UCSC Ensembl
chr4:39759604..39812019hg19UCSC Ensembl
chr4:39435999..39488414hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3852416
hg1952416
hg1852416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003590, nsv1009659
Samples
Known GenesUBE2K
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5193n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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