A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744814



Internal ID10325784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:79110922..79183478hg38UCSC Ensembl
Outerchr11:78821967..78894523hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3872557
hg1972557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845883, essv6882255, essv6931731
SamplesSSM094, SSM085, SSM020
Known GenesTENM4
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)esv2744814
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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