A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6123996



Internal ID9101399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2407397..2407706hg38UCSC Ensembl
chr12:2516563..2516872hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674294
Supporting Variants
SamplesHG00111
Known GenesCACNA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6123996
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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