A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18235



Internal ID9616153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1380125..1544934hg38UCSC Ensembl
Innerchr19:1380124..1544933hg19UCSC Ensembl
Innerchr19:1331124..1495933hg18UCSC Ensembl
Innerchr19:1331124..1495933hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38164810
hg19164810
hg18164810
hg17164810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758485
Supporting Variants
SamplesNA12057
Known GenesADAMTSL5, APC2, C19orf25, DAZAP1, GAMT, NDUFS7, PCSK4, PLK5, REEP6, RPS15
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)essv18235
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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