A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744168



Internal ID9978452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18143639..18143752hg38UCSC Ensembl
Outerchr11:18165186..18165299hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965514, essv6856945
SamplesSSM027, SSM087
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)esv2744168
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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