A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780477



Internal ID19162905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54417854..54428910hg38UCSC Ensembl
Innerchr2:54644991..54656047hg19UCSC Ensembl
Innerchr2:54498495..54509551hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3811057
hg1911057
hg1811057
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892415
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780477
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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