A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1106737



Internal ID5236843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23577376..23577376hg38UCSC Ensembl
chr18:21157340..21157340hg19UCSC Ensembl
chr18:19411338..19411338hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3710443
SamplesHuRef
Known GenesNPC1
MethodSequencing
Analysis
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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