A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275244



Internal ID348150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:4943901..4944167hg38UCSC Ensembl
Outerchr5:4939379..4944445hg38UCSC Ensembl
Innerchr5:4944014..4944280hg19UCSC Ensembl
Outerchr5:4939492..4944558hg19UCSC Ensembl
Innerchr5:4997014..4997280hg18UCSC Ensembl
Outerchr5:4992492..4997558hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg385067
hg195067
hg185067
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585565, essv2585603
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)esv275244
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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