A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8220



Internal ID9630219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10917246..11503666hg38UCSC Ensembl
Innerchr12:11069845..11656600hg19UCSC Ensembl
Innerchr12:10961112..11547867hg18UCSC Ensembl
Innerchr12:10961112..11547867hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38586421
hg19586756
hg18586756
hg17586756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758294
Supporting Variants
SamplesNA19116
Known GenesLOC100129361, 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)essv8220
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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