A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736631



Internal ID9970963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12671035..12671523hg38UCSC Ensembl
Outerchr8:12528544..12529032hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765383, essv6667892
SamplesSSM030, SSM063
Known Genes
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)esv2736631
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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