A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671058



Internal ID9937163
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 StatusM
Merged Variants
Supporting Variantsessv5829679, essv6483819
SamplesHG01441, HG01136
Known GenesPBRM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671058
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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