A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790274



Internal ID18833176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103729765..103817662hg38UCSC Ensembl
Innerchr12:104123543..104211440hg19UCSC Ensembl
Innerchr12:102647673..102735570hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3887898
hg1987898
hg1887898
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892262
Supporting Variants
Samples
Known GenesNT5DC3, STAB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=58
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790274
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