A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692811



Internal ID13738700
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 Flag0
Merged StatusS
Merged Variantsesv3445742
Supporting Variants
SamplesNA12892
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692811
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer