A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585930



Internal ID347509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:61614963..61615064hg38UCSC Ensembl
Outerchr18:61614923..61617620hg38UCSC Ensembl
Innerchr18:59282196..59282297hg19UCSC Ensembl
Outerchr18:59282156..59284853hg19UCSC Ensembl
Innerchr18:57433176..57433277hg18UCSC Ensembl
Outerchr18:57433136..57435833hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382698
hg192698
hg182698
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275064
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585930
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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