A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737594



Internal ID10321230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:131869403..131870767hg38UCSC Ensembl
Outerchr8:132881650..132883014hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897235, essv6890806
SamplesSSM097, SSM099
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)esv2737594
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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