A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758603



Internal ID9634062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21271792..22451831hg38UCSC Ensembl
InnerchrY:23433678..24597978hg19UCSC Ensembl
InnerchrY:21843066..23007366hg18UCSC Ensembl
InnerchrY:21771803..22936103hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg381180040
hg191164301
hg181164301
hg171164301
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758908
Supporting Variantsessv18436, essv23856, essv8634, essv10335, essv6564, essv24922, essv18335, essv23148, essv13749, essv17003, essv19626, essv16435, essv19270, essv12750, essv6224, essv11423, essv23228, essv12816, essv10469
SamplesNA18621, NA07029, NA12155, NA12891, NA11994, NA19239, NA11831, NA19120, NA07022, NA18515, NA10838, NA18857, NA18914, NA19144, NA06994, NA18636, NA18506, NA19139, NA19153
Known GenesCYorf17, LOC100652931, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RBMY2EP, RBMY2FP, TTTY13, TTTY5, TTTY6, TTTY6B
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)esv2758603
Frequency
Sample Size270
Observed Gain63
Observed Loss1
Observed Complex0
Frequencyn/a


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