A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692640



Internal ID13332517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10325478..10494376hg38UCSC Ensembl
Innerchr21:10326478..10493376hg38UCSC Ensembl
Outerchr21:10324478..10495376hg38UCSC Ensembl
chr21:11018081..11186979hg19UCSC Ensembl
Innerchr21:11019081..11185979hg19UCSC Ensembl
Outerchr21:11017081..11187979hg19UCSC Ensembl
chr21:10039952..10208850hg18UCSC Ensembl
Innerchr21:10040952..10207850hg18UCSC Ensembl
Outerchr21:10038952..10209850hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38168899
hg19168899
hg18168899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3451408
Supporting Variants
SamplesNA12878
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692640
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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