A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275060



Internal ID1280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26928023..26932980hg38UCSC Ensembl
Outerchr2:26927568..26934540hg38UCSC Ensembl
Innerchr2:27150891..27155848hg19UCSC Ensembl
Outerchr2:27150436..27157408hg19UCSC Ensembl
Innerchr2:27004395..27009352hg18UCSC Ensembl
Outerchr2:27003940..27010912hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386973
hg196973
hg186973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585130
Samples
Known GenesDPYSL5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275060
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