A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444896



Internal ID15291848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53188666..53188989hg38UCSC Ensembl
Innerchr8:53188792..53188863hg38UCSC Ensembl
Outerchr8:53188540..53189115hg38UCSC Ensembl
chr8:54101226..54101549hg19UCSC Ensembl
Innerchr8:54101352..54101423hg19UCSC Ensembl
Outerchr8:54101100..54101675hg19UCSC Ensembl
chr8:54263779..54264102hg18UCSC Ensembl
Innerchr8:54263905..54263976hg18UCSC Ensembl
Outerchr8:54263653..54264228hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671509, essv8671511
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444896
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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