A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940211



Internal ID10047791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66496344..66496623hg38UCSC Ensembl
Outerchr11:66263815..66264094hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744637
Supporting Variants
SamplesSSM022
Known GenesDPP3
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)essv6940211
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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