A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21059



Internal ID9619291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54596370..54880532hg38UCSC Ensembl
Innerchr19:55107835..55391988hg19UCSC Ensembl
Innerchr19:59799647..60083800hg18UCSC Ensembl
Innerchr19:59799647..60083800hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38284163
hg19284154
hg18284154
hg17284154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758507
Supporting Variants
SamplesNA06991
Known GenesFCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LILRA1, LILRB1, LILRB4, LILRP2, LOC100287534, MIR8061
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)essv21059
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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