A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364218



Internal ID14864479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165692381..165692389hg38UCSC Ensembl
Innerchr4:165692383..165692387hg38UCSC Ensembl
Outerchr4:165692379..165692391hg38UCSC Ensembl
chr4:166613533..166613541hg19UCSC Ensembl
Innerchr4:166613535..166613539hg19UCSC Ensembl
Outerchr4:166613531..166613543hg19UCSC Ensembl
chr4:166832983..166832991hg18UCSC Ensembl
Innerchr4:166832985..166832989hg18UCSC Ensembl
Outerchr4:166832981..166832993hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864388, essv7864389
SamplesNA18520, NA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364218
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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