A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330808



Internal ID14831085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42669673..42671171hg38UCSC Ensembl
Innerchr21:42670171..42670673hg38UCSC Ensembl
Outerchr21:42668673..42672171hg38UCSC Ensembl
chr21:44089783..44091281hg19UCSC Ensembl
Innerchr21:44090281..44090783hg19UCSC Ensembl
Outerchr21:44088783..44092281hg19UCSC Ensembl
chr21:42962852..42964350hg18UCSC Ensembl
Innerchr21:42963852..42963350hg18UCSC Ensembl
Outerchr21:42961852..42965350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2500e59
Supporting Variantsessv8692706
SamplesNA19239
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330808
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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