A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275440



Internal ID348346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128446023..128446265hg38UCSC Ensembl
Outerchr4:128441464..128448718hg38UCSC Ensembl
Innerchr4:129367178..129367420hg19UCSC Ensembl
Outerchr4:129362619..129369873hg19UCSC Ensembl
Innerchr4:129586628..129586870hg18UCSC Ensembl
Outerchr4:129582069..129589323hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg387255
hg197255
hg187255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585554
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)esv275440
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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