A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797389



Internal ID18831800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2143757hg38UCSC Ensembl
Innerchr12:2245636..2252923hg19UCSC Ensembl
Innerchr12:2115897..2123184hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387288
hg197288
hg187288
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892125
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797389
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