A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369724



Internal ID15216700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88379843..88381341hg38UCSC Ensembl
Innerchr16:88380341..88380843hg38UCSC Ensembl
Outerchr16:88378843..88382341hg38UCSC Ensembl
chr16:88446251..88447749hg19UCSC Ensembl
Innerchr16:88446749..88447251hg19UCSC Ensembl
Outerchr16:88445251..88448749hg19UCSC Ensembl
chr16:86973752..86975250hg18UCSC Ensembl
Innerchr16:86974752..86974250hg18UCSC Ensembl
Outerchr16:86972752..86976250hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1659e59
Supporting Variantsessv8690479
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369724
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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