A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275470



Internal ID348376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154788489..154788592hg38UCSC Ensembl
Outerchr1:154788119..154788633hg38UCSC Ensembl
Innerchr1:154760965..154761068hg19UCSC Ensembl
Outerchr1:154760595..154761109hg19UCSC Ensembl
Innerchr1:153027589..153027692hg18UCSC Ensembl
Outerchr1:153027219..153027733hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38515
hg19515
hg18515
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585231, essv2585581
Samples
Known GenesKCNN3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275470
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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