A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18335



Internal ID9616264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21451664..21597504hg38UCSC Ensembl
InnerchrY:23613550..23759390hg19UCSC Ensembl
InnerchrY:22022938..22168778hg18UCSC Ensembl
InnerchrY:21951675..22097515hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38145841
hg19145841
hg18145841
hg17145841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758603
Supporting Variants
SamplesNA11994
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E, TTTY13
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)essv18335
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