A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791165



Internal ID18825903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146622636..147676169hg38UCSC Ensembl
Innerchr2:147380204..148433737hg19UCSC Ensembl
Innerchr2:147096674..148150207hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381053534
hg191053534
hg181053534
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893481
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=139
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791165
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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