A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747031



Internal ID5057763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:133260520..133260717hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6866698
SamplesSSM011
Known GenesPOLE
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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