A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv86e215



Internal ID20151125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101478888..101478939hg38UCSC Ensembl
chr12:101872666..101872717hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3559699, esv3549690
Samples
Known GenesSPIC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv86e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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