A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv819e59



Internal ID22762039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47940844..47941312hg38UCSC Ensembl
chr12:48334627..48335095hg19UCSC Ensembl
chr12:46620894..46621362hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38469
hg19469
hg18469
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3303101, esv3302604
SamplesNA18980, NA12045, NA12750, NA11992, NA12878, NA18576, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv819e59
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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