A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275209



Internal ID1812747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55550196..55550605hg19UCSC Ensembl
Outerchr4:55549785..55550618hg19UCSC Ensembl
Innerchr4:55244953..55245362hg18UCSC Ensembl
Outerchr4:55244542..55245375hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv2585156, essv2586048
Samples
Known GenesKIT
Method
AnalysisSV_analysis_a1
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee et al 2011
Pubmed ID21479260
Accession Number(s)esv275209
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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