A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758601



Internal ID9980678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:10001565..10266944hg38UCSC Ensembl
InnerchrY:9839174..10104553hg19UCSC Ensembl
InnerchrY:10449174..10714553hg18UCSC Ensembl
InnerchrY:10432535..10697914hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38265380
hg19265380
hg18265380
hg17265380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758906
Supporting Variantsessv17010, essv11630, essv391, essv12177, essv24931, essv11181, essv12830, essv17941, essv871, essv15838, essv9666, essv20217, essv17571, essv8440, essv21733, essv4728
SamplesNA12248, NA12762, NA19120, NA12003, NA18516, NA19000, NA19154, NA19101, NA12144, NA18913, NA19144, NA06994, NA18971, NA19223, NA19211, NA18620
Known Genes
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)esv2758601
Frequency
Sample Size270
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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