A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706681



Internal ID10119494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46390429..46405612hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg1915184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714357
Supporting Variants
SamplesSSM040
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)essv6706681
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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