A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424921



Internal ID15271878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46184468..46185063hg38UCSC Ensembl
Innerchr21:46184468..46185063hg38UCSC Ensembl
Outerchr21:46184447..46185265hg38UCSC Ensembl
chr21:47604382..47604977hg19UCSC Ensembl
Innerchr21:47604382..47604977hg19UCSC Ensembl
Outerchr21:47604361..47605179hg19UCSC Ensembl
chr21:46428810..46429405hg18UCSC Ensembl
Innerchr21:46428810..46429405hg18UCSC Ensembl
Outerchr21:46428789..46429607hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652150
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424921
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer