A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675923



Internal ID9595342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68284418..68299217hg38UCSC Ensembl
chr16:68318321..68333120hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3814800
hg1914800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5488127
SamplesHG00533
Known GenesSLC7A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675923
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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