A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3352n100



Internal ID22789439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47857930..47874989hg38UCSC Ensembl
chr18:45384301..45401360hg19UCSC Ensembl
chr18:43638299..43655358hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3817060
hg1917060
hg1817060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059619, nsv1059902, nsv1057181, nsv1066562
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)dgv3352n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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