A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673904



Internal ID9593323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27402209..27405296hg38UCSC Ensembl
Outerchr8:27402172..27405346hg38UCSC Ensembl
Innerchr8:27259726..27262813hg19UCSC Ensembl
Outerchr8:27259689..27262863hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5720740
SamplesNA19401
Known GenesPTK2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673904
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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