A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21383



Internal ID9619651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10917246..11561987hg38UCSC Ensembl
Innerchr12:11069845..11714921hg19UCSC Ensembl
Innerchr12:10961112..11606188hg18UCSC Ensembl
Innerchr12:10961112..11606188hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38644742
hg19645077
hg18645077
hg17645077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758294
Supporting Variants
SamplesNA12740
Known GenesLOC100129361, LOC338817, PRB1, PRB2, PRB3, PRB4, PRH1-PRR4, PRH2, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50
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)essv21383
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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