A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425589



Internal ID14925860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13356852..13358450hg38UCSC Ensembl
Innerchr3:13357450..13357852hg38UCSC Ensembl
Outerchr3:13355852..13359450hg38UCSC Ensembl
chr3:13398352..13399950hg19UCSC Ensembl
Innerchr3:13398950..13399352hg19UCSC Ensembl
Outerchr3:13397352..13400950hg19UCSC Ensembl
chr3:13373352..13374950hg18UCSC Ensembl
Innerchr3:13374352..13373950hg18UCSC Ensembl
Outerchr3:13372352..13375950hg18UCSC Ensembl
Cytoband3p25.1
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 Variantsessv8693846
SamplesNA19239
Known GenesNUP210
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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