A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743862



Internal ID10324832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:664500..664620hg38UCSC Ensembl
Outerchr11:664500..664620hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862143, essv6958947, essv6856890, essv6965457, essv6866877, essv6672836, essv6976787, essv6819465
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM078
Known GenesDEAF1
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)esv2743862
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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