A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275037



Internal ID1257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193244249..193252773hg38UCSC Ensembl
Outerchr1:193244068..193255953hg38UCSC Ensembl
Innerchr1:193213379..193221903hg19UCSC Ensembl
Outerchr1:193213198..193225083hg19UCSC Ensembl
Innerchr1:191480002..191488526hg18UCSC Ensembl
Outerchr1:191479821..191491706hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3811886
hg1911886
hg1811886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585209
Samples
Known GenesCDC73
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275037
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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