A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716715



Internal ID5064005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5456739..5457635hg19UCSC 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 Variantsessv6744534, essv6971641, essv6967042, essv6804040, essv6858367, essv6735651, essv6921026, essv6674382, essv6750195, essv6665979, essv6820552, essv6741694, essv6977373, essv6806939, essv6960574, essv6863271, essv6758720
SamplesSSM027, SSM053, SSM078, SSM088, SSM031, SSM056, SSM017, SSM028, SSM029, SSM073, SSM087, SSM052, SSM074, SSM004, SSM026, SSM049, SSM059
Known GenesEPB41L3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2716715
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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