A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749148



Internal ID5059880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102464538..102464662hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6678142
SamplesSSM032
Known GenesDYNC1H1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2749148
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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