A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17003



Internal ID9614785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21451664..21848281hg38UCSC Ensembl
InnerchrY:23613550..23994428hg19UCSC Ensembl
InnerchrY:22022938..22403816hg18UCSC Ensembl
InnerchrY:21951675..22332553hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38396618
hg19380879
hg18380879
hg17380879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758603
Supporting Variants
SamplesNA19144
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)essv17003
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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