A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309838



Internal ID14810103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216265174..216265175hg38UCSC Ensembl
Innerchr1:216265156..216265193hg38UCSC Ensembl
Outerchr1:216265155..216265194hg38UCSC Ensembl
chr1:216438516..216438517hg19UCSC Ensembl
Innerchr1:216438498..216438535hg19UCSC Ensembl
Outerchr1:216438497..216438536hg19UCSC Ensembl
chr1:214505139..214505140hg18UCSC Ensembl
Innerchr1:214505158..214505121hg18UCSC Ensembl
Outerchr1:214505120..214505159hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841851, essv7842594
SamplesNA19238, NA19240
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309838
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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