A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676844



Internal ID9596263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18996083..19001475hg38UCSC Ensembl
chr8:18853593..18858985hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385393
hg195393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6231607, essv6305015, essv6115088, essv6458069, essv5900244, essv5848983, essv5991918, essv6251160, essv6066177, essv5669078
SamplesNA19445, NA19469, NA19453, NA19474, NA19438, NA19429, NA19395, NA19703, NA19452, NA19448
Known GenesPSD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676844
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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