A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692693



Internal ID15113358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41954374..41955572hg38UCSC Ensembl
Innerchr21:41954572..41955374hg38UCSC Ensembl
Outerchr21:41953374..41956572hg38UCSC Ensembl
chr21:43374483..43375681hg19UCSC Ensembl
Innerchr21:43374681..43375483hg19UCSC Ensembl
Outerchr21:43373483..43376681hg19UCSC Ensembl
chr21:42247552..42248750hg18UCSC Ensembl
Innerchr21:42248552..42247750hg18UCSC Ensembl
Outerchr21:42246552..42249750hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347434
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692693
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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