A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737470



Internal ID10321106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:116617885..116620741hg38UCSC Ensembl
Outerchr8:117630124..117632980hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg382857
hg192857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734814, essv6931192, essv6873281
SamplesSSM020, SSM091, SSM049
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)esv2737470
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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