A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692699



Internal ID14766718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42292373..42294471hg38UCSC Ensembl
Innerchr21:42293373..42293471hg38UCSC Ensembl
Outerchr21:42291373..42295471hg38UCSC Ensembl
chr21:43712483..43714581hg19UCSC Ensembl
Innerchr21:43713483..43713581hg19UCSC Ensembl
Outerchr21:43711483..43715581hg19UCSC Ensembl
chr21:42585552..42587650hg18UCSC Ensembl
Innerchr21:42586552..42586650hg18UCSC Ensembl
Outerchr21:42584552..42588650hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3379059
Supporting Variants
SamplesNA19240
Known GenesABCG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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