A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692101



Internal ID14719308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204322601..204323999hg38UCSC Ensembl
Innerchr1:204322999..204323601hg38UCSC Ensembl
Outerchr1:204321601..204324999hg38UCSC Ensembl
chr1:204291729..204293127hg19UCSC Ensembl
Innerchr1:204292127..204292729hg19UCSC Ensembl
Outerchr1:204290729..204294127hg19UCSC Ensembl
chr1:202558352..202559750hg18UCSC Ensembl
Innerchr1:202559352..202558750hg18UCSC Ensembl
Outerchr1:202557352..202560750hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357869
Supporting Variants
SamplesNA19239
Known GenesPLEKHA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692101
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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