A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743917



Internal ID9978201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1411613..1412290hg38UCSC Ensembl
Outerchr11:1432843..1433520hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128e201
Supporting Variantsessv6891092, essv6760813, essv6815296, essv6842262, essv6771883, essv6953025, essv6834713, essv6731927, essv6803341
SamplesSSM065, SSM097, SSM073, SSM084, SSM047, SSM061, SSM082, SSM077, SSM025
Known GenesBRSK2
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)esv2743917
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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