A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557151



Internal ID18411541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48759007..48761112hg38UCSC Ensembl
Outerchr20:48758695..48761158hg38UCSC Ensembl
Innerchr20:47375544..47377649hg19UCSC Ensembl
Outerchr20:47375232..47377695hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382464
hg192464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755898
Samples
Known GenesPREX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557151
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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