A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446784



Internal ID14947048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2539125..2539923hg38UCSC Ensembl
Innerchr12:2539124..2539924hg38UCSC Ensembl
Outerchr12:2538125..2540923hg38UCSC Ensembl
chr12:2648291..2649089hg19UCSC Ensembl
Innerchr12:2648290..2649090hg19UCSC Ensembl
Outerchr12:2647291..2650089hg19UCSC Ensembl
chr12:2518552..2519350hg18UCSC Ensembl
Innerchr12:2519351..2518551hg18UCSC Ensembl
Outerchr12:2517552..2520350hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv740e59
Supporting Variantsessv8688663
SamplesNA19239
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446784
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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