A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427469



Internal ID15274425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43325798..43326296hg38UCSC Ensembl
Innerchr20:43325797..43326297hg38UCSC Ensembl
Outerchr20:43324798..43327296hg38UCSC Ensembl
chr20:41954438..41954936hg19UCSC Ensembl
Innerchr20:41954437..41954937hg19UCSC Ensembl
Outerchr20:41953438..41955936hg19UCSC Ensembl
chr20:41387852..41388350hg18UCSC Ensembl
Innerchr20:41388351..41387851hg18UCSC Ensembl
Outerchr20:41386852..41389350hg18UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2432e59
Supporting Variantsessv8692546
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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