A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv88e215



Internal ID19009879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101920268..101920394hg38UCSC Ensembl
chr12:102314046..102314172hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3549694, esv3559701
Samples
Known GenesDRAM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv88e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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