A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385508



Internal ID14885790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43603843..43605541hg38UCSC Ensembl
Innerchr21:43604541..43604843hg38UCSC Ensembl
Outerchr21:43602843..43606541hg38UCSC Ensembl
chr21:45023724..45025422hg19UCSC Ensembl
Innerchr21:45024422..45024724hg19UCSC Ensembl
Outerchr21:45022724..45026422hg19UCSC Ensembl
chr21:43848152..43849850hg18UCSC Ensembl
Innerchr21:43849152..43848850hg18UCSC Ensembl
Outerchr21:43847152..43850850hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2503e59
Supporting Variantsessv8692721
SamplesNA19239
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385508
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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