A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12105541



Internal ID5408003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:155058564..155144235hg38UCSC Ensembl
chr5:154438124..154523795hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3885672
hg1985672
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607254
Supporting Variants
SamplesNA18946
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12105541
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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