A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5481683



Internal ID8735794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:78344245..78358686hg38UCSC Ensembl
Outerchr8:78344208..78358736hg38UCSC Ensembl
Innerchr8:79256480..79270921hg19UCSC Ensembl
Outerchr8:79256443..79270971hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3814529
hg1914529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674459
Supporting Variants
SamplesHG00123
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5481683
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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