A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573951



Internal ID6698647
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998126
Supporting Variants
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573951
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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