A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383428



Internal ID15230398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168000546..168000868hg38UCSC Ensembl
Innerchr3:168000596..168000818hg38UCSC Ensembl
Outerchr3:168000496..168000918hg38UCSC Ensembl
chr3:167718334..167718656hg19UCSC Ensembl
Innerchr3:167718384..167718606hg19UCSC Ensembl
Outerchr3:167718284..167718706hg19UCSC Ensembl
chr3:169201028..169201350hg18UCSC Ensembl
Innerchr3:169201078..169201300hg18UCSC Ensembl
Outerchr3:169200978..169201400hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741089
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383428
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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