A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008653



Internal ID34356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44721941..44721941hg38UCSC Ensembl
chr18:42301906..42301906hg19UCSC Ensembl
chr18:40555904..40555904hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569922
SamplesHuRef
Known GenesSETBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008653
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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