A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357349



Internal ID15204329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22674279..22674297hg38UCSC Ensembl
Innerchr8:22674283..22674291hg38UCSC Ensembl
Outerchr8:22674267..22674309hg38UCSC Ensembl
chr8:22531792..22531810hg19UCSC Ensembl
Innerchr8:22531796..22531804hg19UCSC Ensembl
Outerchr8:22531780..22531822hg19UCSC Ensembl
chr8:22587737..22587755hg18UCSC Ensembl
Innerchr8:22587749..22587741hg18UCSC Ensembl
Outerchr8:22587725..22587767hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8939101, essv8939100, essv8939097, essv8939096, essv8939098, essv8939095, essv8939099
SamplesNA18592, NA18959, NA18951, NA18956, NA18555, NA18542, NA18552
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357349
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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