A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640914



Internal ID6680999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59863061..59886224hg38UCSC Ensembl
chr17:57940422..57963585hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3823164
hg1923164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15714779
SamplesNA20894
Known GenesTUBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640914
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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