A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604523



Internal ID6991551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29166360..29230148hg38UCSC Ensembl
chr5:29166467..29230255hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3863789
hg1963789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11851670
SamplesHG01936
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604523
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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