A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11423



Internal ID9608585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:22132753..22317076hg38UCSC Ensembl
InnerchrY:24278900..24463223hg19UCSC Ensembl
InnerchrY:22688288..22872611hg18UCSC Ensembl
InnerchrY:22617025..22801348hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38184324
hg19184324
hg18184324
hg17184324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758603
Supporting Variants
SamplesNA18857
Known GenesLOC100652931, RBMY1F, RBMY1J, RBMY2FP, 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)essv11423
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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