A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3416n100



Internal ID20155032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80190452..80257174hg38UCSC Ensembl
chr18:77948335..78015057hg19UCSC Ensembl
chr18:76049326..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3866723
hg1966723
hg1866704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059383, nsv1056283, nsv1065443
Samples
Known GenesPARD6G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3416n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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