A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3413n100



Internal ID20155029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80023442..80257174hg38UCSC Ensembl
chr18:77783442..78015057hg19UCSC Ensembl
chr18:75884430..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38233733
hg19231616
hg18231600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062715, nsv1058606, nsv1056275
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1, RBFA, RBFADN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3413n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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