A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580332



Internal ID6705028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52068970..52069020hg38UCSC Ensembl
chr10:53828730..53828780hg19UCSC Ensembl
chr10:53498736..53498786hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001281
Supporting Variants
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580332
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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