A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745149



Internal ID3293101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121108808..121108977hg38UCSC Ensembl
Outerchr11:120979517..120979686hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953158
SamplesSSM025
Known GenesTECTA
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)esv2745149
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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