A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395162



Internal ID8718968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71761320..71772738hg38UCSC Ensembl
Innerchr18:69428556..69439974hg19UCSC Ensembl
Innerchr18:67579536..67590954hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3811419
hg1911419
hg1811419
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656295
Supporting Variants
Samples2312 [11]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395162
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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