A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716715



Internal ID9951003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5456740..5457636hg38UCSC Ensembl
Outerchr18:5456739..5457635hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804040, essv6977373, essv6820552, essv6967042, essv6806939, essv6960574, essv6758720, essv6750195, essv6921026, essv6858367, essv6674382, essv6735651, essv6971641, essv6665979, essv6744534, essv6741694, essv6863271
SamplesSSM059, SSM027, SSM087, SSM073, SSM074, SSM088, SSM028, SSM029, SSM026, SSM017, SSM031, SSM078, SSM053, SSM004, SSM052, SSM049, SSM056
Known GenesEPB41L3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
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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