A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1711446



Internal ID12527879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37491198..37491198hg38UCSC Ensembl
chr18:35071161..35071161hg19UCSC Ensembl
chr18:33325159..33325159hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4036890
SamplesHuRef
Known GenesCELF4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1711446
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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