A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335399



Internal ID15182389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152457373..152458971hg38UCSC Ensembl
Innerchr3:152457971..152458373hg38UCSC Ensembl
Outerchr3:152456373..152459971hg38UCSC Ensembl
chr3:152175162..152176760hg19UCSC Ensembl
Innerchr3:152175760..152176162hg19UCSC Ensembl
Outerchr3:152174162..152177760hg19UCSC Ensembl
chr3:153657852..153659450hg18UCSC Ensembl
Innerchr3:153658852..153658450hg18UCSC Ensembl
Outerchr3:153656852..153660450hg18UCSC Ensembl
Cytoband3q25.2
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 Variantsessv8693866
SamplesNA19239
Known GenesMBNL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335399
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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