A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396878



Internal ID14897155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37614180..37615178hg38UCSC Ensembl
Innerchr21:37614179..37615179hg38UCSC Ensembl
Outerchr21:37613180..37616178hg38UCSC Ensembl
chr21:38986482..38987480hg19UCSC Ensembl
Innerchr21:38986481..38987481hg19UCSC Ensembl
Outerchr21:38985482..38988480hg19UCSC Ensembl
chr21:37908352..37909350hg18UCSC Ensembl
Innerchr21:37909351..37908351hg18UCSC Ensembl
Outerchr21:37907352..37910350hg18UCSC Ensembl
Cytoband21q22.13
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 Variantsessv8692683
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396878
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