A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5427457



Internal ID8404860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66118882..66119602hg38UCSC Ensembl
chr1:66584565..66585285hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668868
Supporting Variants
SamplesNA19901
Known GenesPDE4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5427457
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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