A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354801



Internal ID15201782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154714188..154714256hg38UCSC Ensembl
Innerchr1:154714206..154714238hg38UCSC Ensembl
Outerchr1:154714138..154714306hg38UCSC Ensembl
chr1:154686664..154686732hg19UCSC Ensembl
Innerchr1:154686682..154686714hg19UCSC Ensembl
Outerchr1:154686614..154686782hg19UCSC Ensembl
chr1:152953288..152953356hg18UCSC Ensembl
Innerchr1:152953338..152953306hg18UCSC Ensembl
Outerchr1:152953238..152953406hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740925
SamplesNA12878
Known GenesKCNN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354801
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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