A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731983



Internal ID14385544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47759983..47759984hg38UCSC Ensembl
Outerchr12:47759838..47760130hg38UCSC Ensembl
Innerchr12:48153766..48153767hg19UCSC Ensembl
Outerchr12:48153621..48153913hg19UCSC Ensembl
Innerchr12:46440034..46440033hg18UCSC Ensembl
Outerchr12:46439888..46440180hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302971
Supporting Variants
SamplesNA18870
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731983
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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