A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714353



Internal ID10297989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46390131..46390242hg38UCSC Ensembl
Outerchr16:46387783..46387894hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858038
SamplesSSM087
Known Genes
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)esv2714353
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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