A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566416



Internal ID7037798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218598..23218669hg38UCSC Ensembl
chr18:20798562..20798633hg19UCSC Ensembl
chr18:19052560..19052631hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008398
Supporting Variants
SamplesHuRef
Known GenesCABLES1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566416
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer