A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274994



Internal ID347900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:221342561..221342717hg38UCSC Ensembl
Outerchr1:221339281..221346516hg38UCSC Ensembl
Innerchr1:221515903..221516059hg19UCSC Ensembl
Outerchr1:221512623..221519858hg19UCSC Ensembl
Innerchr1:219582526..219582682hg18UCSC Ensembl
Outerchr1:219579246..219586481hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387236
hg197236
hg187236
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585546, essv2586132
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)esv274994
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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