A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275189



Internal ID348095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48202607..48202619hg38UCSC Ensembl
Outerchr4:48202270..48203925hg38UCSC Ensembl
Innerchr4:48204624..48204636hg19UCSC Ensembl
Outerchr4:48204287..48205942hg19UCSC Ensembl
Innerchr4:47899381..47899393hg18UCSC Ensembl
Outerchr4:47899044..47900699hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg381656
hg191656
hg181656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585553
Samples
Known GenesTEC
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275189
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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