A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716719



Internal ID5064009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5492278..5492512hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6954068, essv6901178
SamplesSSM025, SSM100
Known GenesEPB41L3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2716719
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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