A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744839



Internal ID10325809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:84099707..84100083hg38UCSC Ensembl
Outerchr11:83810750..83811126hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936024, essv6779368, essv6803425, essv6760900, essv6765715
SamplesSSM073, SSM021, SSM061, SSM067, SSM063
Known GenesDLG2
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)esv2744839
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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