A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692161



Internal ID15031545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22678072..22679170hg38UCSC Ensembl
Innerchr1:22678170..22679072hg38UCSC Ensembl
Outerchr1:22677072..22680170hg38UCSC Ensembl
chr1:23004565..23005663hg19UCSC Ensembl
Innerchr1:23004663..23005565hg19UCSC Ensembl
Outerchr1:23003565..23006663hg19UCSC Ensembl
chr1:22877152..22878250hg18UCSC Ensembl
Innerchr1:22878152..22877250hg18UCSC Ensembl
Outerchr1:22876152..22879250hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330989
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692161
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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