A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5041n100



Internal ID20156657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197327674..197627105hg38UCSC Ensembl
chr3:197054545..197353976hg19UCSC Ensembl
chr3:198538942..198838373hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38299432
hg19299432
hg18299432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998081, nsv999417
Samples
Known GenesBDH1, LOC220729
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5041n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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