A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604595



Internal ID6644845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31959372..32006533hg38UCSC Ensembl
chr5:31959478..32006639hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3847162
hg1947162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854962
SamplesHG03832
Known GenesPDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604595
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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