A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557041



Internal ID18411431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36894432..36896140hg38UCSC Ensembl
Outerchr20:36894399..36896174hg38UCSC Ensembl
Innerchr20:35522835..35524543hg19UCSC Ensembl
Outerchr20:35522802..35524577hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755788
Samples
Known GenesSAMHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557041
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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