A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402676



Internal ID15249638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169447574..169448086hg38UCSC Ensembl
Innerchr3:169447689..169447969hg38UCSC Ensembl
Outerchr3:169447457..169448201hg38UCSC Ensembl
chr3:169165362..169165874hg19UCSC Ensembl
Innerchr3:169165477..169165757hg19UCSC Ensembl
Outerchr3:169165245..169165989hg19UCSC Ensembl
chr3:170648056..170648568hg18UCSC Ensembl
Innerchr3:170648171..170648451hg18UCSC Ensembl
Outerchr3:170647939..170648683hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38513
hg19513
hg18513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671100, essv8671101, essv8671102
SamplesNA19238, NA19239, NA19240
Known GenesMECOM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402676
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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