A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737810



Internal ID9972149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142723824..142723985hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894169, essv6709044, essv6672241, essv6827139, essv6908323, essv6694952
SamplesSSM041, SSM031, SSM014, SSM080, SSM037, SSM098
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)esv2737810
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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