A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382192



Internal ID14882468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79821576..79821576hg38UCSC Ensembl
Innerchr12:79821575..79821577hg38UCSC Ensembl
Outerchr12:79821526..79821626hg38UCSC Ensembl
chr12:80215356..80215356hg19UCSC Ensembl
Innerchr12:80215355..80215357hg19UCSC Ensembl
Outerchr12:80215306..80215406hg19UCSC Ensembl
chr12:78739487..78739487hg18UCSC Ensembl
Innerchr12:78739488..78739486hg18UCSC Ensembl
Outerchr12:78739437..78739537hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740762
SamplesNA19240
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382192
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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