A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18277



Internal ID9616199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94429500..94706496hg38UCSC Ensembl
Innerchr5:93765205..94042201hg19UCSC Ensembl
Innerchr5:93790961..94067957hg18UCSC Ensembl
Innerchr5:93790961..94067957hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38276997
hg19276997
hg18276997
hg17276997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758002
Supporting Variants
SamplesNA10846
Known GenesANKRD32, KIAA0825
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)essv18277
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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