A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656316



Internal ID8719515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37721964..37726646hg38UCSC Ensembl
Innerchr18:35301927..35306609hg19UCSC Ensembl
Innerchr18:33555925..33560607hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384683
hg194683
hg184683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12e198
Supporting Variantsessv5395344, essv5395160
Samples2244 [61], 2245 [62]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656316
Frequency
Sample Size64
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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