A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827653



Internal ID9881684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133140992..133141150hg38UCSC Ensembl
Outerchr11:133010887..133011045hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745294, esv2745292
Supporting Variants
SamplesSSM080
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)essv6827653
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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