A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585496



Internal ID389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214465093..214465102hg38UCSC Ensembl
Outerchr1:214464465..214465910hg38UCSC Ensembl
Innerchr1:214638436..214638445hg19UCSC Ensembl
Outerchr1:214637808..214639253hg19UCSC Ensembl
Innerchr1:212705059..212705068hg18UCSC Ensembl
Outerchr1:212704431..212705876hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381446
hg191446
hg181446
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275028
Supporting Variants
Samples
Known GenesPTPN14
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585496
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