A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4741n100



Internal ID22790828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52987994..53003226hg38UCSC Ensembl
chr3:53022010..53037242hg19UCSC Ensembl
chr3:52997050..53012282hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3815233
hg1915233
hg1815233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000407, nsv1007315, nsv1012396, nsv1014633
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4741n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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