A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274966



Internal ID347813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:95869214..95869282hg38UCSC Ensembl
Outerchr7:95866154..95875230hg38UCSC Ensembl
Innerchr7:95498526..95498594hg19UCSC Ensembl
Outerchr7:95495466..95504542hg19UCSC Ensembl
Innerchr7:95336462..95336530hg18UCSC Ensembl
Outerchr7:95333402..95342478hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg389077
hg199077
hg189077
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585579, essv2586022
Samples
Known GenesDYNC1I1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv274966
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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