A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604274



Internal ID6991304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19447890..19473142hg38UCSC Ensembl
chr5:19447999..19473251hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3825253
hg1925253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11830377
SamplesHG03354
Known GenesCDH18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604274
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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