A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610517



Internal ID6997434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118535896..118593919hg38UCSC Ensembl
chr6:118857059..118915082hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3858024
hg1958024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12518367
SamplesHG03788
Known GenesCEP85L, PLN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610517
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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