A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742946



Internal ID18717192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129647236..129647286hg38UCSC Ensembl
chr8:130659482..130659532hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3544199
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742946
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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