A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744183



Internal ID9978467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:20415271..20415788hg38UCSC Ensembl
Outerchr11:20436817..20437334hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965518, essv6743906, essv6737768, essv6737131
SamplesSSM027, SSM050, SSM007, SSM053
Known GenesPRMT3
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)esv2744183
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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