A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737278



Internal ID10320914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:88339668..88339787hg38UCSC Ensembl
Outerchr8:89351897..89352016hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964794, essv6672150, essv6861643, essv6866383, essv6681038, essv6958189, essv6976012, essv6818981
SamplesSSM027, SSM088, SSM029, SSM026, SSM089, SSM031, SSM033, SSM078
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)esv2737278
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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