A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3354n100



Internal ID22789441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47857930..47884389hg38UCSC Ensembl
chr18:45384301..45410760hg19UCSC Ensembl
chr18:43638299..43664758hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3826460
hg1926460
hg1826460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064124, nsv1057028
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)dgv3354n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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