A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692790



Internal ID15033654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10584878..10585976hg38UCSC Ensembl
Innerchr21:10584976..10585878hg38UCSC Ensembl
Outerchr21:10583878..10586976hg38UCSC Ensembl
chr21:10926481..10927579hg19UCSC Ensembl
Innerchr21:10926579..10927481hg19UCSC Ensembl
Outerchr21:10925481..10928579hg19UCSC Ensembl
chr21:9948352..9949450hg18UCSC Ensembl
Innerchr21:9949352..9948450hg18UCSC Ensembl
Outerchr21:9947352..9950450hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451460
Supporting Variants
SamplesNA19238
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692790
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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