A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394455



Internal ID14894734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146990053..146990072hg38UCSC Ensembl
Innerchr5:146990049..146990076hg38UCSC Ensembl
Outerchr5:146990030..146990095hg38UCSC Ensembl
chr5:146369616..146369635hg19UCSC Ensembl
Innerchr5:146369612..146369639hg19UCSC Ensembl
Outerchr5:146369593..146369658hg19UCSC Ensembl
chr5:146349809..146349828hg18UCSC Ensembl
Innerchr5:146349832..146349805hg18UCSC Ensembl
Outerchr5:146349786..146349851hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9624980, essv9624914, essv9624958, essv9624969, essv9624925, essv9624936, essv9624947
SamplesNA12249, NA12815, NA12287, NA12872, NA12812, NA12045, NA12874
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394455
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer