A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369534



Internal ID14869793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2255590..2256024hg38UCSC Ensembl
Innerchr12:2255589..2256025hg38UCSC Ensembl
Outerchr12:2255480..2256144hg38UCSC Ensembl
chr12:2364756..2365190hg19UCSC Ensembl
Innerchr12:2364755..2365191hg19UCSC Ensembl
Outerchr12:2364646..2365310hg19UCSC Ensembl
chr12:2235017..2235451hg18UCSC Ensembl
Innerchr12:2235452..2235016hg18UCSC Ensembl
Outerchr12:2234907..2235571hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38435
hg19435
hg18435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808615
SamplesNA12878
Known GenesCACNA1C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369534
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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