A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958236



Internal ID9720098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:118947198..118947259hg38UCSC Ensembl
Outerchr8:119959437..119959498hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737483, esv2737486, esv2737484
Supporting Variants
SamplesSSM026
Known GenesTNFRSF11B
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)essv6958236
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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