A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790615



Internal ID19165397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66943032..67192264hg38UCSC Ensembl
Innerchr12:67336812..67586044hg19UCSC Ensembl
Innerchr12:65623079..65872311hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38249233
hg19249233
hg18249233
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892209
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=62
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790615
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