A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2375e59



Internal ID22763595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239467221..239468319hg38UCSC Ensembl
chr2:240388915..240390013hg19UCSC Ensembl
chr2:240053852..240054950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3352434, esv3370045, esv3346765
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2375e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer