A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744295



Internal ID10325265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:27767964..27768438hg38UCSC Ensembl
Outerchr11:27789511..27789985hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965533, essv6944738, essv6915979, essv6763284, essv6737780, essv6752449
SamplesSSM027, SSM050, SSM057, SSM023, SSM062, SSM016
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)esv2744295
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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