A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15134



Internal ID9612708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25888973..26086930hg38UCSC Ensembl
Innerchr20:25869609..26067566hg19UCSC Ensembl
Innerchr20:25817609..26015566hg18UCSC Ensembl
Innerchr20:25817609..26015566hg17UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38197958
hg19197958
hg18197958
hg17197958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758517
Supporting Variants
SamplesNA19129
Known GenesFAM182A, LOC100134868
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)essv15134
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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