A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363752



Internal ID15210730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192080609..192080628hg38UCSC Ensembl
Innerchr3:192080605..192080632hg38UCSC Ensembl
Outerchr3:192080586..192080651hg38UCSC Ensembl
chr3:191798398..191798417hg19UCSC Ensembl
Innerchr3:191798394..191798421hg19UCSC Ensembl
Outerchr3:191798375..191798440hg19UCSC Ensembl
chr3:193281092..193281111hg18UCSC Ensembl
Innerchr3:193281115..193281088hg18UCSC Ensembl
Outerchr3:193281069..193281134hg18UCSC Ensembl
Cytoband3q28
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 Variantsessv9613924
SamplesNA12287
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363752
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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