A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747976



Internal ID9982260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108294676..108299496hg38UCSC Ensembl
Outerchr13:108947024..108951844hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384821
hg194821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953449, essv6720893, essv6876828, essv6924548, essv6783769, essv6900783, essv6741271
SamplesSSM100, SSM092, SSM018, SSM044, SSM068, SSM025, SSM052
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)esv2747976
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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