A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388854



Internal ID15235821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67432660..67432714hg38UCSC Ensembl
Innerchr4:67432670..67432701hg38UCSC Ensembl
Outerchr4:67432619..67432755hg38UCSC Ensembl
chr4:68298378..68298432hg19UCSC Ensembl
Innerchr4:68298388..68298419hg19UCSC Ensembl
Outerchr4:68298337..68298473hg19UCSC Ensembl
chr4:67980973..67981027hg18UCSC Ensembl
Innerchr4:67981014..67980983hg18UCSC Ensembl
Outerchr4:67980932..67981068hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919033, essv8919034
SamplesNA18907, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388854
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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