A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737277



Internal ID10320913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:88339215..88340014hg38UCSC Ensembl
Outerchr8:89351444..89352243hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964794, essv6672150, essv6861643, essv6737457, essv6757857, essv6866383, essv6856244, essv6681038, essv6958189, essv6850218, essv6976012, essv6818981
SamplesSSM059, SSM027, SSM087, SSM050, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, 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)esv2737277
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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