A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4224



Internal ID9625779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20349417..20544701hg38UCSC Ensembl
Innerchr19:20460226..20727507hg19UCSC Ensembl
Innerchr19:20321226..20519347hg18UCSC Ensembl
Innerchr19:20321226..20519347hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38195285
hg19267282
hg18198122
hg17198122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758489
Supporting Variants
SamplesNA18603
Known GenesMIR1270-1, MIR1270-2, ZNF737, ZNF826P
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)essv4224
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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