A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559699



Internal ID18414089
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 Variantsdgv86e215
Supporting Variantsessv9758446
Samples
Known GenesSPIC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559699
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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