A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5055n100



Internal ID20156671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..66815hg38UCSC Ensembl
chr4:12269..66707hg19UCSC Ensembl
chr4:2269..56707hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3854547
hg1954439
hg1854439
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999411, nsv999966, nsv1005648, nsv1011925, nsv1006094, nsv1014303
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)dgv5055n100
Frequency
Sample Size29084
Observed Gain454
Observed Loss112
Observed Complex0
Frequencyn/a


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