A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674643



Internal ID9940748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160784465..160784737hg38UCSC Ensembl
chr3:160502253..160502525hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5961374
SamplesNA19108
Known GenesPPM1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674643
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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