A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676258



Internal ID9595677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2352592..2352725hg38UCSC Ensembl
chr12:2461758..2461891hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5757595, essv5692217, essv6099461, essv5903322, essv6340042, essv5819835, essv6438012
SamplesHG01492, HG00375, HG00268, HG00246, HG00320, HG00275, HG00324
Known GenesCACNA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676258
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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