A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305841



Internal ID15152789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21920871..21920872hg38UCSC Ensembl
Innerchr4:21920842..21920901hg38UCSC Ensembl
Outerchr4:21920841..21920902hg38UCSC Ensembl
chr4:21922494..21922495hg19UCSC Ensembl
Innerchr4:21922465..21922524hg19UCSC Ensembl
Outerchr4:21922464..21922525hg19UCSC Ensembl
chr4:21531592..21531593hg18UCSC Ensembl
Innerchr4:21531622..21531563hg18UCSC Ensembl
Outerchr4:21531562..21531623hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745507, essv7744278, essv7756254
SamplesNA18870, NA18510, NA19147
Known GenesKCNIP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305841
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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