A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745290



Internal ID9979574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133015135..133015656hg38UCSC Ensembl
Outerchr11:132885030..132885551hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977074, essv6894601, essv6845912, essv6772000, essv6920099
SamplesSSM065, SSM085, SSM017, SSM029, SSM098
Known GenesOPCML
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)esv2745290
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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