A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557152



Internal ID18411542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48778325..48778457hg38UCSC Ensembl
Outerchr20:48778311..48778462hg38UCSC Ensembl
Innerchr20:47394862..47394994hg19UCSC Ensembl
Outerchr20:47394848..47394999hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755899
Samples
Known GenesPREX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557152
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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