A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866211



Internal ID12971622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32289226..32289237hg38UCSC Ensembl
Innerchr21:32289205..32289258hg38UCSC Ensembl
Outerchr21:32289194..32289269hg38UCSC Ensembl
chr21:33661537..33661548hg19UCSC Ensembl
Innerchr21:33661516..33661569hg19UCSC Ensembl
Outerchr21:33661505..33661580hg19UCSC Ensembl
chr21:32583408..32583419hg18UCSC Ensembl
Innerchr21:32583440..32583387hg18UCSC Ensembl
Outerchr21:32583376..32583451hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328090
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866211
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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