A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416601



Internal ID15263560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45591210..45592208hg38UCSC Ensembl
Innerchr21:45591209..45592209hg38UCSC Ensembl
Outerchr21:45590210..45593208hg38UCSC Ensembl
chr21:47011124..47012122hg19UCSC Ensembl
Innerchr21:47011123..47012123hg19UCSC Ensembl
Outerchr21:47010124..47013122hg19UCSC Ensembl
chr21:45835552..45836550hg18UCSC Ensembl
Innerchr21:45836551..45835551hg18UCSC Ensembl
Outerchr21:45834552..45837550hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692740
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416601
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