A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758489



Internal ID9633948
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 StatusM
Merged Variantsesv2758749
Supporting Variantsessv59, essv17194, essv4224
SamplesNA18603, NA19171, NA18991
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)esv2758489
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer