A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585579



Internal ID347158
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274966
Supporting Variants
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)essv2585579
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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