A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5567394



Internal ID8544797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2437743..2438128hg38UCSC Ensembl
chr12:2546909..2547294hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2660122
Supporting Variants
SamplesNA19088
Known GenesCACNA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5567394
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