A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866463



Internal ID10263298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143316515..143316584hg38UCSC Ensembl
Outerchr8:144398685..144398754hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737994, esv2737993, esv2737992
Supporting Variants
SamplesSSM089
Known GenesTOP1MT
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)essv6866463
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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