A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310537



Internal ID15157488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45054920..45055347hg38UCSC Ensembl
Outerchr21:45054920..45055347hg38UCSC Ensembl
Innerchr21:46474835..46475262hg19UCSC Ensembl
Outerchr21:46474835..46475262hg19UCSC Ensembl
Innerchr21:45299690..45299263hg18UCSC Ensembl
Outerchr21:45299263..45299690hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843541
SamplesNA19240
Known Genes
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310537
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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