A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585597



Internal ID347176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:58002354..58002548hg38UCSC Ensembl
Outerchr4:57999140..58004425hg38UCSC Ensembl
Innerchr4:58868520..58868714hg19UCSC Ensembl
Outerchr4:58865306..58870591hg19UCSC Ensembl
Innerchr4:58563277..58563471hg18UCSC Ensembl
Outerchr4:58560063..58565348hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385286
hg195286
hg185286
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275104
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)essv2585597
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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