A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585723



Internal ID347302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123217841..123218302hg38UCSC Ensembl
Outerchr5:123215649..123218477hg38UCSC Ensembl
Innerchr5:122553535..122553996hg19UCSC Ensembl
Outerchr5:122551343..122554171hg19UCSC Ensembl
Innerchr5:122581434..122581895hg18UCSC Ensembl
Outerchr5:122579242..122582070hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382829
hg192829
hg182829
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275203
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)essv2585723
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer