A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690313



Internal ID15098664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34942380..34962778hg38UCSC Ensembl
Innerchr16:34943380..34961778hg38UCSC Ensembl
Outerchr16:34941380..34963778hg38UCSC Ensembl
chr16:34176751..34197149hg19UCSC Ensembl
Innerchr16:34177751..34196149hg19UCSC Ensembl
Outerchr16:34175751..34198149hg19UCSC Ensembl
chr16:34034252..34054650hg18UCSC Ensembl
Innerchr16:34035252..34053650hg18UCSC Ensembl
Outerchr16:34033252..34055650hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3820399
hg1920399
hg1820399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3350528
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690313
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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