A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24494



Internal ID9623107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54596370..54954956hg38UCSC Ensembl
Innerchr19:55107835..55466324hg19UCSC Ensembl
Innerchr19:59799647..60158136hg18UCSC Ensembl
Innerchr19:59799647..60158136hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38358587
hg19358490
hg18358490
hg17358490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758507
Supporting Variants
SamplesNA12802
Known GenesFCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LILRA1, LILRB1, LILRB4, LILRP2, LOC100287534, MIR8061, NCR1, NLRP7
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)essv24494
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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