A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692812



Internal ID15113915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10533078..10544776hg38UCSC Ensembl
Innerchr21:10534078..10543776hg38UCSC Ensembl
Outerchr21:10532078..10545776hg38UCSC Ensembl
chr21:10967681..10979379hg19UCSC Ensembl
Innerchr21:10968681..10978379hg19UCSC Ensembl
Outerchr21:10966681..10980379hg19UCSC Ensembl
chr21:9989552..10001250hg18UCSC Ensembl
Innerchr21:9990552..10000250hg18UCSC Ensembl
Outerchr21:9988552..10002250hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3811699
hg1911699
hg1811699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3411211
Supporting Variants
SamplesNA19240
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692812
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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