A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671277



Internal ID14755567
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 StatusS
Merged Variantsesv3429928
Supporting Variants
SamplesNA19240
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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