A curated catalogue of human genomic structural variation




Variant Details

Variant: esv30001



Internal ID12608195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42543879..42560687hg38UCSC Ensembl
Innerchr17:40695897..40712705hg19UCSC Ensembl
Innerchr17:37949423..37966231hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816809
hg1916809
hg1816809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84240
SamplesHuRef
Known GenesHSD17B1, NAGLU
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv30001
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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