A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735135



Internal ID9798681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124960009..124960986hg38UCSC Ensembl
Outerchr11:124829905..124830882hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745189, esv2745190
Supporting Variants
SamplesSSM049
Known GenesCCDC15
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)essv6735135
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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