A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692770



Internal ID15033580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10586678..10742376hg38UCSC Ensembl
Innerchr21:10587678..10741376hg38UCSC Ensembl
Outerchr21:10585678..10743376hg38UCSC Ensembl
chr21:10770081..10925779hg19UCSC Ensembl
Innerchr21:10771081..10924779hg19UCSC Ensembl
Outerchr21:10769081..10926779hg19UCSC Ensembl
chr21:9791952..9947650hg18UCSC Ensembl
Innerchr21:9792952..9946650hg18UCSC Ensembl
Outerchr21:9790952..9948650hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38155699
hg19155699
hg18155699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3448498
Supporting Variants
SamplesNA19238
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692770
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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