A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567718



Internal ID7039100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45681043..45681367hg38UCSC Ensembl
chr18:43261008..43261332hg19UCSC Ensembl
chr18:41515006..41515330hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988746
Supporting Variants
SamplesHuRef
Known GenesSLC14A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567718
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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