A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924548



Internal ID9687261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108294773..108299445hg38UCSC Ensembl
Outerchr13:108947121..108951793hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384673
hg194673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747975, esv2747976
Supporting Variants
SamplesSSM018
Known GenesTNFSF13B
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)essv6924548
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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