A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555474



Internal ID18756550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59590964..59591281hg38UCSC Ensembl
Outerchr18:59590888..59591339hg38UCSC Ensembl
Innerchr18:57258196..57258513hg19UCSC Ensembl
Outerchr18:57258120..57258571hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754221
Samples
Known GenesCCBE1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555474
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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