A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309120



Internal ID14809383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26358125..26358126hg38UCSC Ensembl
Innerchr8:26358105..26358146hg38UCSC Ensembl
Outerchr8:26358104..26358147hg38UCSC Ensembl
chr8:26215641..26215642hg19UCSC Ensembl
Innerchr8:26215621..26215662hg19UCSC Ensembl
Outerchr8:26215620..26215663hg19UCSC Ensembl
chr8:26271558..26271559hg18UCSC Ensembl
Innerchr8:26271579..26271538hg18UCSC Ensembl
Outerchr8:26271537..26271580hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842687, essv7841783
SamplesNA19238, NA19240
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309120
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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