A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640726



Internal ID7027500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48808059..48814578hg38UCSC Ensembl
chr17:46885421..46891940hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386520
hg196520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15692535, essv15692536
SamplesNA18563, HG02180
Known GenesTTLL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640726
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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