A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324782



Internal ID14825063
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 StatusM
Merged Variants
Supporting Variantsessv8677068, essv8677069
SamplesNA12891, NA12878
Known GenesPPP2R2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324782
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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