A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3380n100



Internal ID20154996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:66321439..66726779hg38UCSC Ensembl
chr18:63988676..64394016hg19UCSC Ensembl
chr18:62139656..62544996hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38405341
hg19405341
hg18405341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066327, nsv1062587
Samples
Known GenesCDH19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3380n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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