A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5588911



Internal ID8566314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63048527..63053334hg38UCSC Ensembl
chr8:63961086..63965893hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384808
hg194808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672173
Supporting Variants
SamplesNA19313
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5588911
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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