A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715104



Internal ID9949389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89122038..89122190hg38UCSC Ensembl
Outerchr16:89188446..89188598hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966778, essv6960303, essv6867907, essv6674160, essv6688783
SamplesSSM027, SSM026, SSM089, SSM035, SSM031
Known GenesACSF3
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)esv2715104
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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