A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv86e180



Internal ID20123025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045538..105050067hg38UCSC Ensembl
chr2:105661996..105666525hg19UCSC Ensembl
chr2:105028428..105032957hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384530
hg194530
hg184530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv996230, esv1002865
SamplesHuRef
Known GenesMRPS9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv86e180
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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