A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788594



Internal ID19165472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89734878..89853774hg38UCSC Ensembl
Innerchr12:90128655..90247551hg19UCSC Ensembl
Innerchr12:88652786..88771682hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38118897
hg19118897
hg18118897
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892244
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788594
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