A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607479



Internal ID6994413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:164607720..164824249hg38UCSC Ensembl
chr5:164034726..164251255hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38216530
hg19216530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12123835
SamplesNA21090
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607479
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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