A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625040



Internal ID7011881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133299029..133316480hg38UCSC Ensembl
chr10:135112533..135129984hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3817452
hg1917452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13984585
SamplesNA20516
Known GenesTUBGCP2, ZNF511
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625040
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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