A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367314



Internal ID14867573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2682844..2683410hg38UCSC Ensembl
Innerchr12:2682844..2683410hg38UCSC Ensembl
Outerchr12:2682115..2684666hg38UCSC Ensembl
chr12:2792010..2792576hg19UCSC Ensembl
Innerchr12:2792010..2792576hg19UCSC Ensembl
Outerchr12:2791281..2793832hg19UCSC Ensembl
chr12:2662271..2662837hg18UCSC Ensembl
Innerchr12:2662271..2662837hg18UCSC Ensembl
Outerchr12:2661542..2664093hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38567
hg19567
hg18567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651854
SamplesNA19240
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367314
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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