A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9741963



Internal ID18369523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22589085..22589147hg38UCSC Ensembl
chr8:22446598..22446660hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543216
Supporting Variants
Samples
Known GenesPDLIM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9741963
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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