A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563525



Internal ID6688567
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005045
Supporting Variants
SamplesHuRef
Known GenesSRPRB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563525
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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