A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4657n100



Internal ID19015025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5199047..5421695hg38UCSC Ensembl
chr3:5240732..5463381hg19UCSC Ensembl
chr3:5215732..5438381hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38222649
hg19222650
hg18222650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008146, nsv1003823
Samples
Known GenesEDEM1, MIR4790
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4657n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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