A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737547



Internal ID9971886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125468221..125468342hg38UCSC Ensembl
Outerchr8:126480463..126480584hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976071
SamplesSSM029
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)esv2737547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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