A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303558



Internal ID14803820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79867532..79867533hg38UCSC Ensembl
Innerchr12:79867488..79867577hg38UCSC Ensembl
Outerchr12:79867487..79867578hg38UCSC Ensembl
chr12:80261312..80261313hg19UCSC Ensembl
Innerchr12:80261268..80261357hg19UCSC Ensembl
Outerchr12:80261267..80261358hg19UCSC Ensembl
chr12:78785443..78785444hg18UCSC Ensembl
Innerchr12:78785488..78785399hg18UCSC Ensembl
Outerchr12:78785398..78785489hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744481, essv7759220, essv7744063
SamplesNA18508, NA18498, NA18510
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303558
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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