A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701462



Internal ID13297230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147016554..147016554hg38UCSC Ensembl
Innerchr5:147016553..147016555hg38UCSC Ensembl
Outerchr5:147016504..147016604hg38UCSC Ensembl
chr5:146396117..146396117hg19UCSC Ensembl
Innerchr5:146396116..146396118hg19UCSC Ensembl
Outerchr5:146396067..146396167hg19UCSC Ensembl
chr5:146376310..146376310hg18UCSC Ensembl
Innerchr5:146376311..146376309hg18UCSC Ensembl
Outerchr5:146376260..146376360hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3444421
Supporting Variants
SamplesNA12878
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701462
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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