A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6861679



Internal ID10258677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:114245944..114286631hg38UCSC Ensembl
Outerchr8:115258173..115298860hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3840688
hg1940688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737455
Supporting Variants
SamplesSSM088
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)essv6861679
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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