A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692685



Internal ID15069009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39985355..39986353hg38UCSC Ensembl
Innerchr21:39985354..39986354hg38UCSC Ensembl
Outerchr21:39984355..39987353hg38UCSC Ensembl
chr21:41357282..41358280hg19UCSC Ensembl
Innerchr21:41357281..41358281hg19UCSC Ensembl
Outerchr21:41356282..41359280hg19UCSC Ensembl
chr21:40279152..40280150hg18UCSC Ensembl
Innerchr21:40280151..40279151hg18UCSC Ensembl
Outerchr21:40278152..40281150hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375084
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692685
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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