A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744687



Internal ID10325657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69250167..69250574hg38UCSC Ensembl
Outerchr11:69017634..69018041hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702333, essv6712889, essv6953109, essv6842327
SamplesSSM039, SSM042, SSM084, SSM025
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)esv2744687
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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