A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84240



Internal ID11303551
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 StatusS
Merged Variantsesv30001
Supporting Variants
SamplesHuRef
Known GenesHSD17B1, NAGLU
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84240
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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