A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744117



Internal ID9978401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12327651..12327923hg38UCSC Ensembl
Outerchr11:12349198..12349470hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795860
SamplesSSM071
Known GenesMICALCL
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)esv2744117
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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