A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275399



Internal ID1619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157512664..157513173hg38UCSC Ensembl
Outerchr1:157508736..157513483hg38UCSC Ensembl
Innerchr1:157482454..157482963hg19UCSC Ensembl
Outerchr1:157478526..157483273hg19UCSC Ensembl
Innerchr1:155749078..155749587hg18UCSC Ensembl
Outerchr1:155745150..155749897hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384748
hg194748
hg184748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585862
Samples
Known GenesFCRL5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275399
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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