A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2536



Internal ID9623903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6874198..7035196hg38UCSC Ensembl
Innerchr8:6731720..6892718hg19UCSC Ensembl
Innerchr8:6719130..6880128hg18UCSC Ensembl
Innerchr8:6719130..6880128hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38160999
hg19160999
hg18160999
hg17160999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA19003
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv2536
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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