A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5059n100



Internal ID20156675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..141772hg38UCSC Ensembl
chr4:12269..135554hg19UCSC Ensembl
chr4:2269..125554hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38129504
hg19123286
hg18123286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013765, nsv1000820, nsv1005182, nsv1000589, nsv1002630, nsv1012668, nsv1000691
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)dgv5059n100
Frequency
Sample Size29084
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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