A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904868



Internal ID10016898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133939832..133940271hg38UCSC Ensembl
Outerchr11:133809727..133810166hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745310
Supporting Variants
SamplesSSM013
Known GenesIGSF9B
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)essv6904868
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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