A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3415n100



Internal ID20155031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80152049..80257174hg38UCSC Ensembl
chr18:77909932..78015057hg19UCSC Ensembl
chr18:76010923..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38105126
hg19105126
hg18105107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057826, nsv1059911, nsv1056306, nsv1056400, nsv1063545, nsv1063722, nsv1065301, nsv1065636, nsv1056935
Samples
Known GenesPARD6G, 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)dgv3415n100
Frequency
Sample Size29084
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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