A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692813



Internal ID15069651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10537178..10544476hg38UCSC Ensembl
Innerchr21:10538178..10543476hg38UCSC Ensembl
Outerchr21:10536178..10545476hg38UCSC Ensembl
chr21:10967981..10975279hg19UCSC Ensembl
Innerchr21:10968981..10974279hg19UCSC Ensembl
Outerchr21:10966981..10976279hg19UCSC Ensembl
chr21:9989852..9997150hg18UCSC Ensembl
Innerchr21:9990852..9996150hg18UCSC Ensembl
Outerchr21:9988852..9998150hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg387299
hg197299
hg187299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3415159
Supporting Variants
SamplesNA19239
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692813
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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