A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665465



Internal ID9931570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123472818..123486320hg38UCSC Ensembl
chr5:122808512..122822014hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3813503
hg1913503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5522120, essv5815908
SamplesNA18858, HG01055
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665465
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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