A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710721



Internal ID9649645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134281666..134344380hg38UCSC Ensembl
Outerchr11:134151560..134214274hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3862715
hg1962715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745325
Supporting Variants
SamplesSSM006
Known GenesGLB1L2, GLB1L3
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)essv6710721
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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