A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8336n54



Internal ID22776231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53045032..53046335hg38UCSC Ensembl
chr3:53079048..53080351hg19UCSC Ensembl
chr3:53054088..53055391hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381304
hg191304
hg181304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590348, nsv590346, nsv590344, nsv590349, nsv590350, nsv590353, nsv590351, nsv590345
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8336n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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