A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12104253



Internal ID5692452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153921762..153944993hg38UCSC Ensembl
chr5:153301322..153324553hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3823232
hg1923232
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607235
Supporting Variants
SamplesNA19086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12104253
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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