A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345749



Internal ID15192733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12825507..12825520hg38UCSC Ensembl
Innerchr16:12825483..12825544hg38UCSC Ensembl
Outerchr16:12825470..12825557hg38UCSC Ensembl
chr16:12919364..12919377hg19UCSC Ensembl
Innerchr16:12919340..12919401hg19UCSC Ensembl
Outerchr16:12919327..12919414hg19UCSC Ensembl
chr16:12826865..12826878hg18UCSC Ensembl
Innerchr16:12826902..12826841hg18UCSC Ensembl
Outerchr16:12826828..12826915hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865860
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345749
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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