A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745181



Internal ID9979465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124207915..124225511hg38UCSC Ensembl
Outerchr11:124078622..124096216hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3817597
hg1917595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867066, essv6763344, essv6809322, essv6803455, essv6819627, essv6706157, essv6800147
SamplesSSM075, SSM073, SSM062, SSM089, SSM040, SSM072, SSM078
Known GenesOR8G2
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)esv2745181
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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