A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15684475



Internal ID5686291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46153527..46185331hg38UCSC Ensembl
chr17:44230893..44262697hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3831805
hg1931805
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640681
Supporting Variants
SamplesHG03760
Known GenesKANSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15684475
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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