A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5829679



Internal ID9184136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52635543..52636858hg38UCSC Ensembl
chr3:52669559..52670874hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671058
Supporting Variants
SamplesHG01441
Known GenesPBRM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5829679
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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