A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1301210



Internal ID12464332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133784938..133786254hg38UCSC Ensembl
chr3:133503782..133505098hg19UCSC Ensembl
chr3:134986472..134987788hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4105075
SamplesHuRef
Known GenesSRPRB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1301210
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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