A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674132



Internal ID10089441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85361278..85361441hg38UCSC Ensembl
Outerchr16:85394884..85395047hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714847
Supporting Variants
SamplesSSM031
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)essv6674132
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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