A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445742



Internal ID15292693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10524878..10544976hg38UCSC Ensembl
Innerchr21:10525878..10543976hg38UCSC Ensembl
Outerchr21:10523878..10545976hg38UCSC Ensembl
chr21:10967481..10987579hg19UCSC Ensembl
Innerchr21:10968481..10986579hg19UCSC Ensembl
Outerchr21:10966481..10988579hg19UCSC Ensembl
chr21:9989352..10009450hg18UCSC Ensembl
Innerchr21:9990352..10008450hg18UCSC Ensembl
Outerchr21:9988352..10010450hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3820099
hg1920099
hg1820099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692811
SamplesNA12892
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445742
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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