A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv144e180



Internal ID22757554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58383175..58391342hg38UCSC Ensembl
chr5:57679002..57687169hg19UCSC Ensembl
chr5:57714759..57722926hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg388168
hg198168
hg188168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv1004243, esv1004819
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv144e180
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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