A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677068



Internal ID13357246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26358107..26358141hg38UCSC Ensembl
Innerchr8:26358102..26358144hg38UCSC Ensembl
Outerchr8:26358070..26358178hg38UCSC Ensembl
chr8:26215623..26215657hg19UCSC Ensembl
Innerchr8:26215618..26215660hg19UCSC Ensembl
Outerchr8:26215586..26215694hg19UCSC Ensembl
chr8:26271540..26271574hg18UCSC Ensembl
Innerchr8:26271577..26271535hg18UCSC Ensembl
Outerchr8:26271503..26271611hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324782
Supporting Variants
SamplesNA12891
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677068
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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