A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736979



Internal ID10320615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:49058507..49058718hg38UCSC Ensembl
Outerchr8:49971066..49971277hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803039
SamplesSSM073
Known GenesC8orf22
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)esv2736979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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