A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275256



Internal ID348162
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586146, essv2585865
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)esv275256
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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