A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557104



Internal ID18758180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43643382..43645485hg38UCSC Ensembl
Outerchr20:43643147..43645999hg38UCSC Ensembl
Innerchr20:42272022..42274125hg19UCSC Ensembl
Outerchr20:42271787..42274639hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382853
hg192853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755851
Samples
Known GenesIFT52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557104
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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