A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758598



Internal ID9980675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:6087758..6458411hg38UCSC Ensembl
InnerchrY:5955799..6326452hg19UCSC Ensembl
InnerchrY:6015799..6386452hg18UCSC Ensembl
InnerchrY:5999160..6369813hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38370654
hg19370654
hg18370654
hg17370654
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758903
Supporting Variantsessv20001, essv4239, essv15293, essv12267, essv11152, essv6598, essv17011
SamplesNA18621, NA18862, NA18603, NA07048, NA19101, NA19144, NA19211
Known GenesTSPY2, TTTY1, TTTY1B, TTTY2, TTTY21, TTTY21B, TTTY23, TTTY23B, TTTY2B, TTTY7, TTTY7B
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)esv2758598
Frequency
Sample Size270
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer