A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550097



Internal ID18751173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132780061..132780121hg38UCSC Ensembl
chr12:133356647..133356707hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748844
Samples
Known GenesGOLGA3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550097
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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