A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275010



Internal ID347916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:94221906..94222938hg38UCSC Ensembl
Outerchr10:94218640..94223045hg38UCSC Ensembl
Innerchr10:95981663..95982695hg19UCSC Ensembl
Outerchr10:95978397..95982802hg19UCSC Ensembl
Innerchr10:95971653..95972685hg18UCSC Ensembl
Outerchr10:95968387..95972792hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg384406
hg194406
hg184406
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586118, essv2586098
Samples
Known GenesPLCE1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275010
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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