A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350511



Internal ID15197493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184189905..184191503hg38UCSC Ensembl
Innerchr4:184190503..184190905hg38UCSC Ensembl
Outerchr4:184188905..184192503hg38UCSC Ensembl
chr4:185111058..185112656hg19UCSC Ensembl
Innerchr4:185111656..185112058hg19UCSC Ensembl
Outerchr4:185110058..185113656hg19UCSC Ensembl
chr4:185348052..185349650hg18UCSC Ensembl
Innerchr4:185349052..185348650hg18UCSC Ensembl
Outerchr4:185347052..185350650hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694288
SamplesNA19239
Known GenesENPP6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350511
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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