A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737455



Internal ID10321091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:114241581..114287362hg38UCSC Ensembl
Outerchr8:115253810..115299591hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3845782
hg1945782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861679, essv6811811, essv6684595, essv6948476
SamplesSSM024, SSM088, SSM076, SSM034
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)esv2737455
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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