A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427650



Internal ID14927920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46170110..46171008hg38UCSC Ensembl
Innerchr21:46170109..46171009hg38UCSC Ensembl
Outerchr21:46169110..46172008hg38UCSC Ensembl
chr21:47590024..47590922hg19UCSC Ensembl
Innerchr21:47590023..47590923hg19UCSC Ensembl
Outerchr21:47589024..47591922hg19UCSC Ensembl
chr21:46414452..46415350hg18UCSC Ensembl
Innerchr21:46415351..46414451hg18UCSC Ensembl
Outerchr21:46413452..46416350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692755
SamplesNA19238
Known GenesSPATC1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427650
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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