A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275574



Internal ID348480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:213212884..213219752hg38UCSC Ensembl
Outerchr1:213209329..213220257hg38UCSC Ensembl
Innerchr1:213386227..213393095hg19UCSC Ensembl
Outerchr1:213382672..213393600hg19UCSC Ensembl
Innerchr1:211452850..211459718hg18UCSC Ensembl
Outerchr1:211449295..211460223hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3810929
hg1910929
hg1810929
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585417, essv2585910
Samples
Known GenesRPS6KC1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275574
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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