A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011198



Internal ID6723286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79684958..79684958hg38UCSC Ensembl
chr18:77444958..77444958hg19UCSC Ensembl
chr18:75545946..75545946hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571255
SamplesHuRef
Known GenesCTDP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011198
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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