A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723846



Internal ID10134944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6730327..6730632hg38UCSC Ensembl
Outerchr8:6587848..6588153hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736536
Supporting Variants
SamplesSSM045
Known GenesAGPAT5
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)essv6723846
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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