A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5057n100



Internal ID20156673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..88678hg38UCSC Ensembl
chr4:12269..88566hg19UCSC Ensembl
chr4:2269..78566hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3876410
hg1976298
hg1876298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014996, nsv1005289, nsv1003866, nsv1012624, nsv1000888, nsv1006251
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5057n100
Frequency
Sample Size29084
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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