A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744799



Internal ID10325769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76734075..76734741hg38UCSC Ensembl
Outerchr11:76445119..76445785hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894563, essv6668153
SamplesSSM098, SSM030
Known Genes
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)esv2744799
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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