A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370728



Internal ID15217704
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 StatusM
Merged Variants
Supporting Variantsessv8977163, essv8977162, essv8977161, essv8977156, essv8977154, essv8977157, essv8977153, essv8977166, essv8977160, essv8977168, essv8977164, essv8977165, essv8977155, essv8977167, essv8977158
SamplesNA18861, NA18508, NA19190, NA18519, NA18916, NA19114, NA18853, NA19099, NA18909, NA19108, NA18501, NA19093, NA18505, NA18511, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370728
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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