A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429928



Internal ID14930198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146716119..146716285hg38UCSC Ensembl
Innerchr5:146716117..146716287hg38UCSC Ensembl
Outerchr5:146715951..146716453hg38UCSC Ensembl
chr5:146095682..146095848hg19UCSC Ensembl
Innerchr5:146095680..146095850hg19UCSC Ensembl
Outerchr5:146095514..146096016hg19UCSC Ensembl
chr5:146075875..146076041hg18UCSC Ensembl
Innerchr5:146076043..146075873hg18UCSC Ensembl
Outerchr5:146075707..146076209hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38145
hg19145
hg18145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671277, essv8671278
SamplesNA19238, NA19240
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429928
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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