A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275358



Internal ID348264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:58596428..58605140hg38UCSC Ensembl
Outerchr4:58595500..58605443hg38UCSC Ensembl
Innerchr4:59462593..59471305hg19UCSC Ensembl
Outerchr4:59461665..59471608hg19UCSC Ensembl
Innerchr4:59157350..59166062hg18UCSC Ensembl
Outerchr4:59156422..59166365hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg389944
hg199944
hg189944
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585148, essv2585116
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)esv275358
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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