A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585807



Internal ID700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:133148500..133148642hg38UCSC Ensembl
Outerchr4:133147480..133149625hg38UCSC Ensembl
Innerchr4:134069655..134069797hg19UCSC Ensembl
Outerchr4:134068635..134070780hg19UCSC Ensembl
Innerchr4:134289105..134289247hg18UCSC Ensembl
Outerchr4:134288085..134290230hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg382146
hg192146
hg182146
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274926
Supporting Variants
Samples
Known GenesPCDH10
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585807
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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