A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737761



Internal ID9972100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141108622..141110020hg38UCSC Ensembl
Outerchr8:142118721..142120119hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743638
SamplesSSM053
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)esv2737761
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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