A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757783



Internal ID9979860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1892659..2061076hg38UCSC Ensembl
Innerchr2:1896431..2064848hg19UCSC Ensembl
Innerchr2:1875438..2043855hg18UCSC Ensembl
Innerchr2:1866728..2035145hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38168418
hg19168418
hg18168418
hg17168418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759018
Supporting Variantsessv11547, essv8467
SamplesNA18516, NA19173
Known GenesMYT1L
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)esv2757783
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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