A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731756



Internal ID13363731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47940996..47941212hg38UCSC Ensembl
Outerchr12:47940796..47941412hg38UCSC Ensembl
Innerchr12:48334779..48334995hg19UCSC Ensembl
Outerchr12:48334579..48335195hg19UCSC Ensembl
Innerchr12:46621046..46621262hg18UCSC Ensembl
Outerchr12:46620846..46621462hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38617
hg19617
hg18617
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303101
Supporting Variants
SamplesNA12045
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731756
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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