A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931731



Internal ID10038759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:79179516..79181016hg38UCSC Ensembl
Outerchr11:78890561..78892061hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744815, esv2744814
Supporting Variants
SamplesSSM020
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)essv6931731
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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