A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692796



Internal ID15113868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10565678..10578176hg38UCSC Ensembl
Innerchr21:10566678..10577176hg38UCSC Ensembl
Outerchr21:10564678..10579176hg38UCSC Ensembl
chr21:10934281..10946779hg19UCSC Ensembl
Innerchr21:10935281..10945779hg19UCSC Ensembl
Outerchr21:10933281..10947779hg19UCSC Ensembl
chr21:9956152..9968650hg18UCSC Ensembl
Innerchr21:9957152..9967650hg18UCSC Ensembl
Outerchr21:9955152..9969650hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3812499
hg1912499
hg1812499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3381401
Supporting Variants
SamplesNA19240
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692796
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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