A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586081



Internal ID347660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109873177..109873576hg38UCSC Ensembl
Outerchr1:109873004..109874245hg38UCSC Ensembl
Innerchr1:110415799..110416198hg19UCSC Ensembl
Outerchr1:110415626..110416867hg19UCSC Ensembl
Innerchr1:110217322..110217721hg18UCSC Ensembl
Outerchr1:110217149..110218390hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381242
hg191242
hg181242
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275219
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586081
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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