A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1106737



Internal ID1618697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21157340..21157340hg19UCSC Ensembl
chr18:19411338..19411338hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg19158
hg18158
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3710443
SamplesHuRef
Known GenesNPC1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1106737
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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