A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1411247



Internal ID12574369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26958065..26958065hg38UCSC Ensembl
chr18:24538029..24538029hg19UCSC Ensembl
chr18:22792027..22792027hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4066064
SamplesHuRef
Known GenesCHST9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1411247
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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