A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1608190



Internal ID12424625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4002385..4002385hg38UCSC Ensembl
chr18:4002385..4002385hg19UCSC Ensembl
chr18:3992385..3992385hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3639913
SamplesHuRef
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1608190
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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