A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446285



Internal ID15293235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186124869..186126967hg38UCSC Ensembl
Innerchr3:186125869..186125967hg38UCSC Ensembl
Outerchr3:186123869..186127967hg38UCSC Ensembl
chr3:185842658..185844756hg19UCSC Ensembl
Innerchr3:185843658..185843756hg19UCSC Ensembl
Outerchr3:185841658..185845756hg19UCSC Ensembl
chr3:187325352..187327450hg18UCSC Ensembl
Innerchr3:187326352..187326450hg18UCSC Ensembl
Outerchr3:187324352..187328450hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693897
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446285
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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