A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5080n100



Internal ID20156696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1051311..1136187hg38UCSC Ensembl
chr4:1045099..1129975hg19UCSC Ensembl
chr4:1035099..1119975hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3884877
hg1984877
hg1884877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001165, nsv1000594
Samples
Known GenesRNF212, TMED11P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5080n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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