A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335081



Internal ID15182071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20645039..20645053hg38UCSC Ensembl
Innerchr8:20645032..20645057hg38UCSC Ensembl
Outerchr8:20645018..20645071hg38UCSC Ensembl
chr8:20502550..20502564hg19UCSC Ensembl
Innerchr8:20502543..20502568hg19UCSC Ensembl
Outerchr8:20502529..20502582hg19UCSC Ensembl
chr8:20546830..20546844hg18UCSC Ensembl
Innerchr8:20546848..20546823hg18UCSC Ensembl
Outerchr8:20546809..20546862hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677059, essv8677058, essv8677057
SamplesNA12891, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335081
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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