A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17194



Internal ID9614996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20349417..20663141hg38UCSC Ensembl
Innerchr19:20460226..20845947hg19UCSC Ensembl
Innerchr19:20321226..20637787hg18UCSC Ensembl
Innerchr19:20321226..20637787hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38313725
hg19385722
hg18316562
hg17316562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758489
Supporting Variants
SamplesNA19171
Known GenesMIR1270-1, MIR1270-2, ZNF626, 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)essv17194
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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