A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4614n100



Internal ID20156230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:214575..294771hg38UCSC Ensembl
chr3:256258..336454hg19UCSC Ensembl
chr3:231258..311454hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3880197
hg1980197
hg1880197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002942, nsv1006735
Samples
Known GenesCHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4614n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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