A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4850



Internal ID9626474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25888973..26143463hg38UCSC Ensembl
Innerchr20:25869609..26124099hg19UCSC Ensembl
Innerchr20:25817609..26072099hg18UCSC Ensembl
Innerchr20:25817609..26072099hg17UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38254491
hg19254491
hg18254491
hg17254491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758517
Supporting Variants
SamplesNA18540
Known GenesFAM182A, LOC100134868, NCOR1P1
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)essv4850
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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