A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008006



Internal ID7073100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42143535..42144969hg38UCSC Ensembl
Outerchr17:40295553..40296987hg19UCSC Ensembl
Outerchr17:37549079..37550513hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383354
hg193354
hg183354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564821
SamplesHuRef
Known GenesRAB5C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008006
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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