A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730053



Internal ID5040785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33973740..33974322hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6938764, essv6969119
SamplesSSM022, SSM028
Known GenesSLC45A2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730053
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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