A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8321n54



Internal ID20141745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51355615..51395464hg38UCSC Ensembl
chr3:51393046..51432895hg19UCSC Ensembl
chr3:51368086..51407935hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3839850
hg1939850
hg1839850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590274, nsv590275
Samples
Known GenesDOCK3, MANF, RBM15B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8321n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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