A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323409



Internal ID15170384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34940080..34962778hg38UCSC Ensembl
Innerchr16:34941080..34961778hg38UCSC Ensembl
Outerchr16:34939057..34963778hg38UCSC Ensembl
chr16:34174451..34197149hg19UCSC Ensembl
Innerchr16:34175451..34196149hg19UCSC Ensembl
Outerchr16:34173451..34198149hg19UCSC Ensembl
chr16:34031952..34054650hg18UCSC Ensembl
Innerchr16:34032952..34053650hg18UCSC Ensembl
Outerchr16:34030952..34055650hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3822699
hg1922699
hg1822699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1596e59
Supporting Variantsessv8690307
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323409
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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