A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22136



Internal ID9620488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11204127..11539308hg38UCSC Ensembl
Innerchr12:11357035..11692242hg19UCSC Ensembl
Innerchr12:11248302..11583509hg18UCSC Ensembl
Innerchr12:11248302..11583509hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38335182
hg19335208
hg18335208
hg17335208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758294
Supporting Variants
SamplesNA10857
Known GenesPRB1, PRB2, PRB3, PRB4
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)essv22136
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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