A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692350



Internal ID14720562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46581393..46582991hg38UCSC Ensembl
Innerchr1:46581991..46582393hg38UCSC Ensembl
Outerchr1:46580393..46583991hg38UCSC Ensembl
chr1:47047065..47048663hg19UCSC Ensembl
Innerchr1:47047663..47048065hg19UCSC Ensembl
Outerchr1:47046065..47049663hg19UCSC Ensembl
chr1:46819652..46821250hg18UCSC Ensembl
Innerchr1:46820652..46820250hg18UCSC Ensembl
Outerchr1:46818652..46822250hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329869
Supporting Variants
SamplesNA19239
Known GenesMKNK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692350
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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