A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347294



Internal ID14847559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3336028..3337326hg38UCSC Ensembl
Innerchr1:3336326..3337028hg38UCSC Ensembl
Outerchr1:3335028..3338326hg38UCSC Ensembl
chr1:3252592..3253890hg19UCSC Ensembl
Innerchr1:3252890..3253592hg19UCSC Ensembl
Outerchr1:3251592..3254890hg19UCSC Ensembl
chr1:3242452..3243750hg18UCSC Ensembl
Innerchr1:3243452..3242750hg18UCSC Ensembl
Outerchr1:3241452..3244750hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692299
SamplesNA19239
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347294
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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