A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5056n100



Internal ID20156672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..75281hg38UCSC Ensembl
chr4:12269..75174hg19UCSC Ensembl
chr4:2269..65174hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3863013
hg1962906
hg1862906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005787, nsv1002318, nsv1001776, nsv1002693, nsv1001578, nsv1004013, nsv1000292, nsv1001348, nsv1001668, nsv1001177, nsv998279
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)dgv5056n100
Frequency
Sample Size29084
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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