A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410096



Internal ID15257056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13028520..13028540hg38UCSC Ensembl
Innerchr4:13028487..13028573hg38UCSC Ensembl
Outerchr4:13028467..13028593hg38UCSC Ensembl
chr4:13030144..13030164hg19UCSC Ensembl
Innerchr4:13030111..13030197hg19UCSC Ensembl
Outerchr4:13030091..13030217hg19UCSC Ensembl
chr4:12639242..12639262hg18UCSC Ensembl
Innerchr4:12639295..12639209hg18UCSC Ensembl
Outerchr4:12639189..12639315hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864254, essv7864255
SamplesNA19172, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410096
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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