A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997949



Internal ID6733889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18865249..18865298hg38UCSC Ensembl
chr8:18722759..18722808hg19UCSC Ensembl
chr8:18767039..18767088hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584080
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997949
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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