A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692698



Internal ID14686662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42292373..42294171hg38UCSC Ensembl
Innerchr21:42293171..42293373hg38UCSC Ensembl
Outerchr21:42291373..42295171hg38UCSC Ensembl
chr21:43712483..43714281hg19UCSC Ensembl
Innerchr21:43713281..43713483hg19UCSC Ensembl
Outerchr21:43711483..43715281hg19UCSC Ensembl
chr21:42585552..42587350hg18UCSC Ensembl
Innerchr21:42586552..42586350hg18UCSC Ensembl
Outerchr21:42584552..42588350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395228
Supporting Variants
SamplesNA19238
Known GenesABCG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692698
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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