A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736981



Internal ID10320617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:49096587..49096795hg38UCSC Ensembl
Outerchr8:50009146..50009354hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860609, essv6975958, essv6818937, essv6958127, essv6964736
SamplesSSM027, SSM011, SSM029, SSM026, 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)esv2736981
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer