A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8634



Internal ID9630678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21451664..22317076hg38UCSC Ensembl
InnerchrY:23613550..24463223hg19UCSC Ensembl
InnerchrY:22022938..22872611hg18UCSC Ensembl
InnerchrY:21951675..22801348hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38865413
hg19849674
hg18849674
hg17849674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758603
Supporting Variants
SamplesNA19239
Known GenesLOC100652931, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, 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)essv8634
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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