A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002280



Internal ID7067396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132497364..132506365hg38UCSC Ensembl
Outerchr9:135372751..135381752hg19UCSC Ensembl
Outerchr9:134362572..134371573hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg389002
hg199002
hg189002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564301
SamplesHuRef
Known GenesC9orf171
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002280
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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