A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604544



Internal ID6991572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29812479..29841516hg38UCSC Ensembl
chr5:29812586..29841623hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3829038
hg1929038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11853259
SamplesNA19332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604544
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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