A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3348n100



Internal ID22789435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47842216..47868015hg38UCSC Ensembl
chr18:45368587..45394386hg19UCSC Ensembl
chr18:43622585..43648384hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3825800
hg1925800
hg1825800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062894, nsv1064797
Samples
Known GenesSMAD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3348n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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