A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274897



Internal ID347857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104206847..104207007hg38UCSC Ensembl
Outerchr2:104206256..104209036hg38UCSC Ensembl
Innerchr2:104823305..104823465hg19UCSC Ensembl
Outerchr2:104822714..104825494hg19UCSC Ensembl
Innerchr2:104189737..104189897hg18UCSC Ensembl
Outerchr2:104189146..104191926hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382781
hg192781
hg182781
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585805, essv2586174
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)esv274897
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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