A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745185



Internal ID10326155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124381976..124398442hg38UCSC Ensembl
Outerchr11:124251872..124268338hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3816467
hg1916467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977053, essv6752524, essv6940271, essv6743979, essv6977052, essv6763346, essv6827645
SamplesSSM057, SSM029, SSM062, SSM053, SSM080, SSM022
Known GenesOR8B2, OR8B3
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)esv2745185
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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