A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435572



Internal ID15282526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10564478..10573076hg38UCSC Ensembl
Innerchr21:10565478..10572076hg38UCSC Ensembl
Outerchr21:10563478..10574076hg38UCSC Ensembl
chr21:10939381..10947979hg19UCSC Ensembl
Innerchr21:10940381..10946979hg19UCSC Ensembl
Outerchr21:10938381..10948979hg19UCSC Ensembl
chr21:9961252..9969850hg18UCSC Ensembl
Innerchr21:9962252..9968850hg18UCSC Ensembl
Outerchr21:9960252..9970850hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg388599
hg198599
hg188599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692799
SamplesNA12892
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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