A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8700414



Internal ID13287874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147016553..147017090hg38UCSC Ensembl
Innerchr5:147016613..147017021hg38UCSC Ensembl
Outerchr5:147016463..147017131hg38UCSC Ensembl
chr5:146396116..146396653hg19UCSC Ensembl
Innerchr5:146396176..146396584hg19UCSC Ensembl
Outerchr5:146396026..146396694hg19UCSC Ensembl
chr5:146376309..146376846hg18UCSC Ensembl
Innerchr5:146376369..146376777hg18UCSC Ensembl
Outerchr5:146376219..146376887hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3427676
Supporting Variants
SamplesNA12878
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8700414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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