A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443347



Internal ID14943614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79867527..79867565hg38UCSC Ensembl
Innerchr12:79867535..79867555hg38UCSC Ensembl
Outerchr12:79867499..79867593hg38UCSC Ensembl
chr12:80261307..80261345hg19UCSC Ensembl
Innerchr12:80261315..80261335hg19UCSC Ensembl
Outerchr12:80261279..80261373hg19UCSC Ensembl
chr12:78785438..78785476hg18UCSC Ensembl
Innerchr12:78785466..78785446hg18UCSC Ensembl
Outerchr12:78785410..78785504hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958449, essv8958451, essv8958450
SamplesNA18508, NA18498, NA18510
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443347
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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