A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8977164



Internal ID13820592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32013238..32013248hg38UCSC Ensembl
Innerchr21:32013230..32013254hg38UCSC Ensembl
Outerchr21:32013220..32013264hg38UCSC Ensembl
chr21:33385551..33385561hg19UCSC Ensembl
Innerchr21:33385543..33385567hg19UCSC Ensembl
Outerchr21:33385533..33385577hg19UCSC Ensembl
chr21:32307422..32307432hg18UCSC Ensembl
Innerchr21:32307438..32307414hg18UCSC Ensembl
Outerchr21:32307404..32307448hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370728
Supporting Variants
SamplesNA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8977164
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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