A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605985



Internal ID6992922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100673066..100760471hg38UCSC Ensembl
chr5:100008770..100096175hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3887406
hg1987406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11997644
SamplesHG00478
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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