A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005045



Internal ID6717169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133782747..133792129hg38UCSC Ensembl
Outerchr3:133501591..133510973hg19UCSC Ensembl
Outerchr3:134984281..134993663hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg389383
hg199383
hg189383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563525
SamplesHuRef
Known GenesSRPRB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005045
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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