A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656213



Internal ID8372717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45256922..45258723hg38UCSC Ensembl
Innerchr18:42836887..42838688hg19UCSC Ensembl
Innerchr18:41090885..41092686hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381802
hg191802
hg181802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395343
Samples2333 [30]
Known GenesSLC14A2
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656213
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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