A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348578



Internal ID14848843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2643773..2644771hg38UCSC Ensembl
Innerchr2:2643772..2644772hg38UCSC Ensembl
Outerchr2:2642773..2645771hg38UCSC Ensembl
chr2:2647545..2648543hg19UCSC Ensembl
Innerchr2:2647544..2648544hg19UCSC Ensembl
Outerchr2:2646545..2649543hg19UCSC Ensembl
chr2:2626552..2627550hg18UCSC Ensembl
Innerchr2:2627551..2626551hg18UCSC Ensembl
Outerchr2:2625552..2628550hg18UCSC Ensembl
Cytoband2p25.3
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 Variantsessv8693600
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348578
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