A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585393



Internal ID286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52354510..52354956hg38UCSC Ensembl
Outerchr18:52353872..52355816hg38UCSC Ensembl
Innerchr18:49880880..49881326hg19UCSC Ensembl
Outerchr18:49880242..49882186hg19UCSC Ensembl
Innerchr18:48134878..48135324hg18UCSC Ensembl
Outerchr18:48134240..48136184hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381945
hg191945
hg181945
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275550
Supporting Variants
Samples
Known GenesDCC
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585393
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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