A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744328



Internal ID10325298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33848431..33851304hg38UCSC Ensembl
Outerchr11:33869977..33872850hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382874
hg192874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763289, essv6749560, essv6959027, essv6787608, essv6953066, essv6760849, essv6834742
SamplesSSM069, SSM061, SSM062, SSM026, SSM082, SSM025, SSM056
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)esv2744328
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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