A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395446



Internal ID8718853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4535746..4536648hg38UCSC Ensembl
Innerchr18:4535746..4536648hg19UCSC Ensembl
Innerchr18:4525746..4526648hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38903
hg19903
hg18903
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656181
Supporting Variants
Samples2242 [59]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395446
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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