A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692322



Internal ID14720453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39629093..39630991hg38UCSC Ensembl
Innerchr1:39629991..39630093hg38UCSC Ensembl
Outerchr1:39628093..39631991hg38UCSC Ensembl
chr1:40094765..40096663hg19UCSC Ensembl
Innerchr1:40095663..40095765hg19UCSC Ensembl
Outerchr1:40093765..40097663hg19UCSC Ensembl
chr1:39867352..39869250hg18UCSC Ensembl
Innerchr1:39868352..39868250hg18UCSC Ensembl
Outerchr1:39866352..39870250hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367103
Supporting Variants
SamplesNA19239
Known GenesHEYL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692322
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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