A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604900



Internal ID6645150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43397295..43408837hg38UCSC Ensembl
chr5:43397397..43408939hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3811543
hg1911543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11884437
SamplesHG01770
Known GenesCCL28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604900
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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