A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406739



Internal ID15253701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29456430..29462228hg38UCSC Ensembl
Innerchr16:29457430..29461228hg38UCSC Ensembl
Outerchr16:29455430..29463228hg38UCSC Ensembl
chr16:29467751..29473549hg19UCSC Ensembl
Innerchr16:29468751..29472549hg19UCSC Ensembl
Outerchr16:29466751..29474549hg19UCSC Ensembl
chr16:29375252..29381050hg18UCSC Ensembl
Innerchr16:29376252..29380050hg18UCSC Ensembl
Outerchr16:29374252..29382050hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385799
hg195799
hg185799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689934
SamplesNA19240
Known GenesSLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406739
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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