A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750376



Internal ID10331346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2087759..2088252hg38UCSC Ensembl
Outerchr16:2137760..2138253hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936652
SamplesSSM021
Known GenesTSC2
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)esv2750376
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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