A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746802



Internal ID9808056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134281520..134344359hg38UCSC Ensembl
Outerchr11:134151414..134214253hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3862840
hg1962840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745325
Supporting Variants
SamplesSSM055
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)essv6746802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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