A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656181



Internal ID8719393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4532500..4536648hg38UCSC Ensembl
Innerchr18:4532500..4536648hg19UCSC Ensembl
Innerchr18:4522500..4526648hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384149
hg194149
hg184149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395300, essv5395446
Samples2315 [14], 2242 [59]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656181
Frequency
Sample Size64
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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