A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275054



Internal ID1274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69261947..69262092hg38UCSC Ensembl
Outerchr17:69260085..69264004hg38UCSC Ensembl
Innerchr17:67258088..67258233hg19UCSC Ensembl
Outerchr17:67256226..67260145hg19UCSC Ensembl
Innerchr17:64769683..64769828hg18UCSC Ensembl
Outerchr17:64767821..64771740hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg383920
hg193920
hg183920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585555
Samples
Known GenesABCA5
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275054
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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