A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5060n100



Internal ID20156676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..209848hg38UCSC Ensembl
chr4:12269..203637hg19UCSC Ensembl
chr4:2269..193637hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38197580
hg19191369
hg18191369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012511, nsv1003404, nsv1005940, nsv1012094, nsv1010553, nsv1004958, nsv1007320, nsv1010661
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)dgv5060n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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