A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3350n100



Internal ID22789437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47842216..47881034hg38UCSC Ensembl
chr18:45368587..45407405hg19UCSC Ensembl
chr18:43622585..43661403hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3838819
hg1938819
hg1838819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057525, nsv1057298, nsv1064282, nsv1065607, nsv1063859, nsv1062731
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)dgv3350n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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