A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659994



Internal ID9579413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18993371..19007762hg38UCSC Ensembl
chr8:18850881..18865272hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3814392
hg1914392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6285090, essv6574178, essv5923112, essv6447398, essv6260478, essv5428949, essv5719150, essv6156430
SamplesHG01359, NA20771, NA19726, NA20533, NA20589, HG01073, NA20507, HG00142
Known GenesPSD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659994
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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