A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799551



Internal ID18818204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:153016331..153094137hg38UCSC Ensembl
Innerchr2:153872845..153950651hg19UCSC Ensembl
Innerchr2:153581091..153658897hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3877807
hg1977807
hg1877807
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893500
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799551
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