A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630973



Internal ID6671106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122263863..122274137hg38UCSC Ensembl
chr12:122748410..122758684hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810275
hg1910275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621409, essv14621408, essv14621407
SamplesNA20808, HG00096, NA12716
Known GenesCLIP1, VPS33A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630973
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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