A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694255



Internal ID15042793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153033050..153034648hg38UCSC Ensembl
Innerchr4:153033648..153034050hg38UCSC Ensembl
Outerchr4:153032050..153035648hg38UCSC Ensembl
chr4:153954202..153955800hg19UCSC Ensembl
Innerchr4:153954800..153955202hg19UCSC Ensembl
Outerchr4:153953202..153956800hg19UCSC Ensembl
chr4:154173652..154175250hg18UCSC Ensembl
Innerchr4:154174652..154174250hg18UCSC Ensembl
Outerchr4:154172652..154176250hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3452081
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694255
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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