A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999632



Internal ID7082240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:92721603..92728985hg38UCSC Ensembl
Outerchr9:95483885..95491267hg19UCSC Ensembl
Outerchr9:94523706..94531088hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg387383
hg197383
hg187383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563740
SamplesHuRef
Known GenesBICD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999632
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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