A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405686



Internal ID15252648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45631810..45637008hg38UCSC Ensembl
Innerchr21:45632810..45636008hg38UCSC Ensembl
Outerchr21:45630810..45638008hg38UCSC Ensembl
chr21:47051724..47056922hg19UCSC Ensembl
Innerchr21:47052724..47055922hg19UCSC Ensembl
Outerchr21:47050724..47057922hg19UCSC Ensembl
chr21:45876152..45881350hg18UCSC Ensembl
Innerchr21:45877152..45880350hg18UCSC Ensembl
Outerchr21:45875152..45882350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692741
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405686
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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