A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998126



Internal ID6734066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18793941..18794914hg38UCSC Ensembl
chr8:18651451..18652424hg19UCSC Ensembl
chr8:18695731..18696704hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38974
hg19974
hg18974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573951
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998126
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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