A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585865



Internal ID347444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:122711617..122713071hg38UCSC Ensembl
Outerchr5:122709059..122713784hg38UCSC Ensembl
Innerchr5:122047312..122048766hg19UCSC Ensembl
Outerchr5:122044754..122049479hg19UCSC Ensembl
Innerchr5:122075211..122076665hg18UCSC Ensembl
Outerchr5:122072653..122077378hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg384726
hg194726
hg184726
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275256
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)essv2585865
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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