A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866469



Internal ID9916617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143981273..143981403hg38UCSC Ensembl
Outerchr8:145055441..145055571hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738046, esv2738047
Supporting Variants
SamplesSSM089
Known GenesPARP10
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)essv6866469
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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