A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604556



Internal ID6991584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30475260..30567148hg38UCSC Ensembl
chr5:30475367..30567255hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3891889
hg1991889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11853324
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604556
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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