A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559701



Internal ID18414091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101920282..101920384hg38UCSC Ensembl
chr12:102314060..102314162hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e215
Supporting Variantsessv9758448
Samples
Known GenesDRAM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559701
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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