A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010025



Internal ID7059719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76297270..76307481hg38UCSC Ensembl
Outerchr9:78912186..78922397hg19UCSC Ensembl
Outerchr9:78102006..78112217hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3810212
hg1910212
hg1810212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564269
SamplesHuRef
Known GenesPCSK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010025
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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