A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742511



Internal ID9976795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855730..64856276hg38UCSC Ensembl
Outerchr11:64623202..64623748hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141e201
Supporting Variantsessv6879404
SamplesSSM093
Known GenesEHD1
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)esv2742511
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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