A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22821



Internal ID9621249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:232069..376646hg38UCSC Ensembl
Innerchr19:232069..376646hg19UCSC Ensembl
Innerchr19:183069..327646hg18UCSC Ensembl
Innerchr19:183069..327646hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38144578
hg19144578
hg18144578
hg17144578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758484
Supporting Variants
SamplesNA12004
Known GenesMIER2, PPAP2C, THEG
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)essv22821
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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