A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5047n100



Internal ID22791134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198052748..198111695hg38UCSC Ensembl
chr3:197779619..197838566hg19UCSC Ensembl
chr3:199264016..199322963hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3858948
hg1958948
hg1858948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011630, nsv1005077
Samples
Known GenesANKRD18DP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5047n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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