A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745323



Internal ID10326293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134228217..134228558hg38UCSC Ensembl
Outerchr11:134098111..134098452hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6908810
SamplesSSM014
Known GenesVPS26B
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)esv2745323
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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