A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604532



Internal ID6991560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29456140..29575792hg38UCSC Ensembl
chr5:29456247..29575899hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38119653
hg19119653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11852951
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604532
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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