A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8919033



Internal ID13858660
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 StatusS
Merged Variantsesv3388854
Supporting Variants
SamplesNA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8919033
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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