A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6806808



Internal ID10208682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:80162863..80163223hg38UCSC Ensembl
Outerchr16:80196760..80197120hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714768, esv2714767
Supporting Variants
SamplesSSM074
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)essv6806808
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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