A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11539



Internal ID9608713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129461919..129649272hg38UCSC Ensembl
Innerchr12:129946464..130133817hg19UCSC Ensembl
Innerchr12:128512417..128699770hg18UCSC Ensembl
Innerchr12:128471344..128658697hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38187354
hg19187354
hg18187354
hg17187354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758320
Supporting Variants
SamplesNA19173
Known GenesTMEM132D
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)essv11539
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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