A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714837



Internal ID9949122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84735852..84736216hg38UCSC Ensembl
Outerchr16:84769458..84769822hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725072, essv6932511
SamplesSSM020, SSM045
Known GenesUSP10
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)esv2714837
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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