A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379869



Internal ID15226841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2826327..2827325hg38UCSC Ensembl
Innerchr4:2826326..2827326hg38UCSC Ensembl
Outerchr4:2825327..2828325hg38UCSC Ensembl
chr4:2828054..2829052hg19UCSC Ensembl
Innerchr4:2828053..2829053hg19UCSC Ensembl
Outerchr4:2827054..2830052hg19UCSC Ensembl
chr4:2797852..2798850hg18UCSC Ensembl
Innerchr4:2798851..2797851hg18UCSC Ensembl
Outerchr4:2796852..2799850hg18UCSC Ensembl
Cytoband4p16.3
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 Variantsessv8694378
SamplesNA19239
Known GenesSH3BP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379869
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