A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302865



Internal ID15149813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83590540..83591661hg38UCSC Ensembl
Innerchr1:83590640..83591561hg38UCSC Ensembl
Outerchr1:83590440..83591761hg38UCSC Ensembl
chr1:84056223..84057344hg19UCSC Ensembl
Innerchr1:84056323..84057244hg19UCSC Ensembl
Outerchr1:84056123..84057444hg19UCSC Ensembl
chr1:83828811..83829932hg18UCSC Ensembl
Innerchr1:83828911..83829832hg18UCSC Ensembl
Outerchr1:83828711..83830032hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381122
hg191122
hg181122
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737217, essv7735096, essv7733091, essv7738716, essv7732008, essv7736382
SamplesNA18870, NA10847, NA18566, NA18912, NA18501, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302865
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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