A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741335



Internal ID10295451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:664316..665403hg38UCSC Ensembl
Outerchr11:664316..665403hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124e201
Supporting Variantsessv6737741
SamplesSSM050
Known GenesDEAF1
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)esv2741335
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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