A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310454



Internal ID14810719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110310156..110310156hg38UCSC Ensembl
Outerchr1:110310156..110310156hg38UCSC Ensembl
Innerchr1:110852778..110852778hg19UCSC Ensembl
Outerchr1:110852778..110852778hg19UCSC Ensembl
Innerchr1:110654301..110654301hg18UCSC Ensembl
Outerchr1:110654301..110654301hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843411
SamplesNA12878
Known GenesLOC440600
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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