A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745116



Internal ID10326086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117120939..117121787hg38UCSC Ensembl
Outerchr11:116991655..116992503hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803449, essv6737846, essv6938451, essv6749622, essv6834825, essv6873619, essv6760922, essv6944861, essv6743972, essv6977038
SamplesSSM073, SSM050, SSM023, SSM061, SSM029, SSM003, SSM082, SSM053, SSM091, SSM056
Known Genes
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)esv2745116
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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