A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936844



Internal ID9695595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89565970..89566486hg38UCSC Ensembl
Outerchr16:89632378..89632894hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715169
Supporting Variants
SamplesSSM021
Known GenesRPL13
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)essv6936844
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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