A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1515e59



Internal ID20128264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29451230..29455328hg38UCSC Ensembl
chr16:29462551..29466649hg19UCSC Ensembl
chr16:29370052..29374150hg18UCSC 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 Variantsesv3359364, esv3416609
SamplesNA19239, NA19240
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1515e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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