A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988212



Internal ID6724186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:75902479..75907713hg38UCSC Ensembl
Outerchr9:78517395..78522629hg19UCSC Ensembl
Outerchr9:77707215..77712449hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385235
hg195235
hg185235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564030
SamplesHuRef
Known GenesPCSK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988212
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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