A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352585



Internal ID14852849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43973843..43975541hg38UCSC Ensembl
Innerchr21:43974541..43974843hg38UCSC Ensembl
Outerchr21:43972843..43976541hg38UCSC Ensembl
chr21:45393724..45395422hg19UCSC Ensembl
Innerchr21:45394422..45394724hg19UCSC Ensembl
Outerchr21:45392724..45396422hg19UCSC Ensembl
chr21:44218152..44219850hg18UCSC Ensembl
Innerchr21:44219152..44218850hg18UCSC Ensembl
Outerchr21:44217152..44220850hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2504e59
Supporting Variantsessv8692726
SamplesNA19240
Known GenesAGPAT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352585
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