A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783041



Internal ID18836119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2143758hg38UCSC Ensembl
Innerchr12:2245636..2252924hg19UCSC Ensembl
Innerchr12:2115897..2123185hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387289
hg197289
hg187289
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 HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783041
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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