A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3414n100



Internal ID20155030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80110621..80257174hg38UCSC Ensembl
chr18:77868505..78015057hg19UCSC Ensembl
chr18:75969493..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38146554
hg19146553
hg18146537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066704, nsv1066374, nsv1055162, nsv1056558, nsv1066211
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3414n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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