A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409715



Internal ID15256675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55687197..55687247hg38UCSC Ensembl
Innerchr16:55687206..55687238hg38UCSC Ensembl
Outerchr16:55687188..55687256hg38UCSC Ensembl
chr16:55721109..55721159hg19UCSC Ensembl
Innerchr16:55721118..55721150hg19UCSC Ensembl
Outerchr16:55721100..55721168hg19UCSC Ensembl
chr16:54278610..54278660hg18UCSC Ensembl
Innerchr16:54278619..54278651hg18UCSC Ensembl
Outerchr16:54278601..54278669hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670743, essv8670744, essv8670742, essv8670740
SamplesNA19238, NA19239, NA12878, NA19240
Known GenesSLC6A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409715
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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