A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585925



Internal ID347504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29478096..29478097hg38UCSC Ensembl
Outerchr5:29477062..29478217hg38UCSC Ensembl
Innerchr5:29478203..29478204hg19UCSC Ensembl
Outerchr5:29477169..29478324hg19UCSC Ensembl
Innerchr5:29513960..29513961hg18UCSC Ensembl
Outerchr5:29512926..29514081hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381156
hg191156
hg181156
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275035
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)essv2585925
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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