A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959685



Internal ID10062058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113506335..113506387hg38UCSC Ensembl
Outerchr13:114160650..114160702hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748303, esv2748299, esv2748301
Supporting Variants
SamplesSSM026
Known GenesTMCO3
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)essv6959685
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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