A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692696



Internal ID14721969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42292373..42294071hg38UCSC Ensembl
Innerchr21:42293071..42293373hg38UCSC Ensembl
Outerchr21:42291373..42295071hg38UCSC Ensembl
chr21:43712483..43714181hg19UCSC Ensembl
Innerchr21:43713181..43713483hg19UCSC Ensembl
Outerchr21:43711483..43715181hg19UCSC Ensembl
chr21:42585552..42587250hg18UCSC Ensembl
Innerchr21:42586552..42586250hg18UCSC Ensembl
Outerchr21:42584552..42588250hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384821
Supporting Variants
SamplesNA19239
Known GenesABCG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692696
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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