A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692798



Internal ID15069603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10567778..10576676hg38UCSC Ensembl
Innerchr21:10568778..10575676hg38UCSC Ensembl
Outerchr21:10566778..10577676hg38UCSC Ensembl
chr21:10935781..10944679hg19UCSC Ensembl
Innerchr21:10936781..10943679hg19UCSC Ensembl
Outerchr21:10934781..10945679hg19UCSC Ensembl
chr21:9957652..9966550hg18UCSC Ensembl
Innerchr21:9958652..9965550hg18UCSC Ensembl
Outerchr21:9956652..9967550hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg388899
hg198899
hg188899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3399311
Supporting Variants
SamplesNA19239
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692798
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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