A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438608



Internal ID15285561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60282285..60282309hg38UCSC Ensembl
Innerchr8:60282295..60282297hg38UCSC Ensembl
Outerchr8:60282271..60282323hg38UCSC Ensembl
chr8:61194844..61194868hg19UCSC Ensembl
Innerchr8:61194854..61194856hg19UCSC Ensembl
Outerchr8:61194830..61194882hg19UCSC Ensembl
chr8:61357398..61357422hg18UCSC Ensembl
Innerchr8:61357410..61357408hg18UCSC Ensembl
Outerchr8:61357384..61357436hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8940077, essv8940074, essv8940076, essv8940075
SamplesNA12761, NA18871, NA18912, NA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438608
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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