A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6758188



Internal ID9818597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125426016..125426943hg38UCSC Ensembl
Outerchr11:125295912..125296839hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745198, esv2745201
Supporting Variants
SamplesSSM059
Known GenesPKNOX2
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)essv6758188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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