A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19564



Internal ID9617629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54163847..54268428hg38UCSC Ensembl
Innerchr19:54667579..54772282hg19UCSC Ensembl
Innerchr19:59359391..59464094hg18UCSC Ensembl
Innerchr19:59359391..59464094hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38104582
hg19104704
hg18104704
hg17104704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758507
Supporting Variants
SamplesNA12864
Known GenesLILRA6, LILRB3, LILRB5, MBOAT7, RPS9, TMC4, TSEN34
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)essv19564
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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