A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3347n100



Internal ID22789434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47833641..47881034hg38UCSC Ensembl
chr18:45360012..45407405hg19UCSC Ensembl
chr18:43614010..43661403hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3847394
hg1947394
hg1847394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059186, nsv1058673
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)dgv3347n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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