A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772003



Internal ID9832553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134069325..134069762hg38UCSC Ensembl
Outerchr11:133939220..133939657hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745312
Supporting Variants
SamplesSSM065
Known GenesJAM3
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)essv6772003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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