A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349454



Internal ID15196436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207013684..207016282hg38UCSC Ensembl
Innerchr1:207014684..207015282hg38UCSC Ensembl
Outerchr1:207012684..207017282hg38UCSC Ensembl
chr1:207187029..207189627hg19UCSC Ensembl
Innerchr1:207188029..207188627hg19UCSC Ensembl
Outerchr1:207186029..207190627hg19UCSC Ensembl
chr1:205253652..205256250hg18UCSC Ensembl
Innerchr1:205254652..205255250hg18UCSC Ensembl
Outerchr1:205252652..205257250hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692106
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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