A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3349n100



Internal ID22789436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47842216..47871252hg38UCSC Ensembl
chr18:45368587..45397623hg19UCSC Ensembl
chr18:43622585..43651621hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3829037
hg1929037
hg1829037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066394, nsv1060581
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)dgv3349n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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