A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992121



Internal ID7077795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3874636..3881099hg38UCSC Ensembl
Outerchr17:3777930..3784393hg19UCSC Ensembl
Outerchr17:3724679..3731142hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg386464
hg196464
hg186464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563744
SamplesHuRef
Known GenesCAMKK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992121
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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