A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557135



Internal ID18411525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47156115..47156165hg38UCSC Ensembl
chr20:45784754..45784804hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755882
Samples
Known GenesEYA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557135
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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