A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841783



Internal ID14736657
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 StatusS
Merged Variantsesv3309120
Supporting Variants
SamplesNA19240
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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