A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5403763



Internal ID8381166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3146919..3147039hg38UCSC Ensembl
chr1:3063483..3063603hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665020
Supporting Variants
SamplesHG00705
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5403763
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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