A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586083



Internal ID347662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59464501..59465160hg38UCSC Ensembl
Outerchr18:59464064..59466920hg38UCSC Ensembl
Innerchr18:57131733..57132392hg19UCSC Ensembl
Outerchr18:57131296..57134152hg19UCSC Ensembl
Innerchr18:55282713..55283372hg18UCSC Ensembl
Outerchr18:55282276..55285132hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg382857
hg192857
hg182857
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274875
Supporting Variants
Samples
Known GenesCCBE1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586083
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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