A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5561292



Internal ID8538695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2256041..2257980hg38UCSC Ensembl
chr12:2365207..2367146hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381940
hg191940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670400
Supporting Variants
SamplesNA18487
Known GenesCACNA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5561292
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer