A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308903



Internal ID14809166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67742868..67742869hg38UCSC Ensembl
Innerchr1:67742800..67742937hg38UCSC Ensembl
Outerchr1:67742799..67742938hg38UCSC Ensembl
chr1:68208551..68208552hg19UCSC Ensembl
Innerchr1:68208483..68208620hg19UCSC Ensembl
Outerchr1:68208482..68208621hg19UCSC Ensembl
chr1:67981139..67981140hg18UCSC Ensembl
Innerchr1:67981208..67981071hg18UCSC Ensembl
Outerchr1:67981070..67981209hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38146
hg19146
hg18146
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839013
SamplesNA19238
Known GenesGNG12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308903
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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