A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998088



Internal ID7081491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3868233..3868430hg38UCSC Ensembl
chr17:3771527..3771724hg19UCSC Ensembl
chr17:3718276..3718473hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38198
hg19198
hg18198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583799
SamplesHuRef
Known GenesCAMKK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998088
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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