A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7302757



Internal ID10581039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45789559..45789613hg38UCSC Ensembl
chr3:45831051..45831105hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3033190
Supporting Variants
SamplesHuRef
Known GenesSLC6A20
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7302757
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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