A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819627



Internal ID9872584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124207915..124225509hg38UCSC Ensembl
Outerchr11:124078622..124096214hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3817595
hg1917593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745181, esv2745180
Supporting Variants
SamplesSSM078
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)essv6819627
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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