A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12092502



Internal ID3567060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147944420..147958634hg38UCSC Ensembl
chr5:147323983..147338197hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814215
hg1914215
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607098
Supporting Variants
SamplesHG03159
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12092502
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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