A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275124



Internal ID348030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177675565..177676076hg38UCSC Ensembl
Outerchr2:177673856..177676431hg38UCSC Ensembl
Innerchr2:178540293..178540804hg19UCSC Ensembl
Outerchr2:178538584..178541159hg19UCSC Ensembl
Innerchr2:178248539..178249050hg18UCSC Ensembl
Outerchr2:178246830..178249405hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382576
hg192576
hg182576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585675
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275124
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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