A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324641



Internal ID14824922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146719789..146719804hg38UCSC Ensembl
Innerchr5:146719783..146719810hg38UCSC Ensembl
Outerchr5:146719768..146719825hg38UCSC Ensembl
chr5:146099352..146099367hg19UCSC Ensembl
Innerchr5:146099346..146099373hg19UCSC Ensembl
Outerchr5:146099331..146099388hg19UCSC Ensembl
chr5:146079545..146079560hg18UCSC Ensembl
Innerchr5:146079566..146079539hg18UCSC Ensembl
Outerchr5:146079524..146079581hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927095, essv8927097, essv8927085, essv8927098, essv8927099, essv8927087, essv8927096, essv8927090, essv8927092, essv8927089, essv8927084, essv8927093, essv8927086, essv8927088, essv8927083, essv8927094
SamplesNA18502, NA18510, NA18489, NA19138, NA12828, NA18871, NA19114, NA18499, NA19099, NA18909, NA19108, NA18517, NA19093, NA18505, NA12006, NA18522
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324641
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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