A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275247



Internal ID348153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76565625..76565717hg38UCSC Ensembl
Outerchr18:76561873..76566099hg38UCSC Ensembl
Innerchr18:74277582..74277674hg19UCSC Ensembl
Outerchr18:74273830..74278056hg19UCSC Ensembl
Innerchr18:72406570..72406662hg18UCSC Ensembl
Outerchr18:72402818..72407044hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384227
hg194227
hg184227
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585741, essv2586059
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)esv275247
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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