A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1416189



Internal ID12232625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18594144..18594349hg38UCSC Ensembl
chr8:18451654..18451859hg19UCSC Ensembl
chr8:18495934..18496139hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38206
hg19206
hg18206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3888402
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1416189
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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