A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758904



Internal ID9981049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:7827590..8069957hg38UCSC Ensembl
InnerchrY:7695631..7937998hg19UCSC Ensembl
InnerchrY:7755631..7997998hg18UCSC Ensembl
InnerchrY:7738992..7981359hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38242368
hg19242368
hg18242368
hg17242368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758599
SamplesNA18608
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)esv2758904
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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