A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585227



Internal ID346806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104928557..104930154hg38UCSC Ensembl
Outerchr9:104924176..104933072hg38UCSC Ensembl
Innerchr9:107690838..107692435hg19UCSC Ensembl
Outerchr9:107686457..107695353hg19UCSC Ensembl
Innerchr9:106730659..106732256hg18UCSC Ensembl
Outerchr9:106726278..106735174hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg388897
hg198897
hg188897
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274886
Supporting Variants
Samples
Known GenesABCA1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585227
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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