A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742842



Internal ID9977126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45101669..45102513hg38UCSC Ensembl
Outerchr11:45123220..45124064hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137e201
Supporting Variantsessv6920009
SamplesSSM017
Known GenesPRDM11
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)esv2742842
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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