A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736802



Internal ID3287298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27835944..27836014hg38UCSC Ensembl
Outerchr8:27693461..27693531hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672069
SamplesSSM031
Known GenesPBK
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)esv2736802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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