A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4743n100



Internal ID22790830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52994359..53011897hg38UCSC Ensembl
chr3:53028375..53045913hg19UCSC Ensembl
chr3:53003415..53020953hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3817539
hg1917539
hg1817539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997853, nsv1004559
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)dgv4743n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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