A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412597



Internal ID15259556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101349032..101349051hg38UCSC Ensembl
Innerchr1:101349028..101349055hg38UCSC Ensembl
Outerchr1:101349009..101349074hg38UCSC Ensembl
chr1:101814588..101814607hg19UCSC Ensembl
Innerchr1:101814584..101814611hg19UCSC Ensembl
Outerchr1:101814565..101814630hg19UCSC Ensembl
chr1:101587176..101587195hg18UCSC Ensembl
Innerchr1:101587199..101587172hg18UCSC Ensembl
Outerchr1:101587153..101587218hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678324
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412597
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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