A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275460



Internal ID1680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172031285..172031628hg38UCSC Ensembl
Outerchr1:172027066..172031886hg38UCSC Ensembl
Innerchr1:172000425..172000768hg19UCSC Ensembl
Outerchr1:171996206..172001026hg19UCSC Ensembl
Innerchr1:170267048..170267391hg18UCSC Ensembl
Outerchr1:170262829..170267649hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg384821
hg194821
hg184821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586000
Samples
Known GenesDNM3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275460
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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