A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819476



Internal ID9872448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1950380..1951049hg38UCSC Ensembl
Outerchr11:1971610..1972279hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743985
Supporting Variants
SamplesSSM078
Known GenesMRPL23
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)essv6819476
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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