A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989506



Internal ID6725474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33689329..33698778hg38UCSC Ensembl
Outerchr5:33689434..33698883hg19UCSC Ensembl
Outerchr5:33725191..33734640hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg389450
hg199450
hg189450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565497
SamplesHuRef
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989506
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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