A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784051



Internal ID9842389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8564343..8564910hg38UCSC Ensembl
Outerchr16:8614345..8614912hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713937, esv2713935
Supporting Variants
SamplesSSM068
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)essv6784051
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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