A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701355



Internal ID13296255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110310157..110310157hg38UCSC Ensembl
Innerchr1:110310156..110310158hg38UCSC Ensembl
Outerchr1:110310107..110310207hg38UCSC Ensembl
chr1:110852779..110852779hg19UCSC Ensembl
Innerchr1:110852778..110852780hg19UCSC Ensembl
Outerchr1:110852729..110852829hg19UCSC Ensembl
chr1:110654302..110654302hg18UCSC Ensembl
Innerchr1:110654303..110654301hg18UCSC Ensembl
Outerchr1:110654252..110654352hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3330024
Supporting Variants
SamplesNA12878
Known GenesLOC440600
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701355
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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