A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305259



Internal ID14805521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26358132..26358133hg38UCSC Ensembl
Innerchr8:26358101..26358164hg38UCSC Ensembl
Outerchr8:26358100..26358165hg38UCSC Ensembl
chr8:26215648..26215649hg19UCSC Ensembl
Innerchr8:26215617..26215680hg19UCSC Ensembl
Outerchr8:26215616..26215681hg19UCSC Ensembl
chr8:26271565..26271566hg18UCSC Ensembl
Innerchr8:26271597..26271534hg18UCSC Ensembl
Outerchr8:26271533..26271598hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762091, essv7748493, essv7761832, essv7758015, essv7759537, essv7740741, essv7757124
SamplesNA11829, NA12155, NA12891, NA12003, NA12878, NA12043, NA12763
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305259
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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