A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736865



Internal ID10320501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34585101..34585790hg38UCSC Ensembl
Outerchr8:34442619..34443308hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766287, essv6746368, essv6760508, essv6787083, essv6740511, essv6752091, essv6811764
SamplesSSM008, SSM057, SSM069, SSM061, SSM076, SSM055, SSM052
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)esv2736865
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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