A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337619



Internal ID15184606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29487730..29491828hg38UCSC Ensembl
Innerchr16:29488730..29490828hg38UCSC Ensembl
Outerchr16:29486730..29492828hg38UCSC Ensembl
chr16:29499051..29503149hg19UCSC Ensembl
Innerchr16:29500051..29502149hg19UCSC Ensembl
Outerchr16:29498051..29504149hg19UCSC Ensembl
chr16:29406552..29410650hg18UCSC Ensembl
Innerchr16:29407552..29409650hg18UCSC Ensembl
Outerchr16:29405552..29411650hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689940
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337619
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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