A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757949



Internal ID9633408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114420923..114669169hg38UCSC Ensembl
Innerchr4:115342079..115590325hg19UCSC Ensembl
Innerchr4:115561528..115809774hg18UCSC Ensembl
Innerchr4:115699683..115947929hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38248247
hg19248247
hg18248247
hg17248247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759275
Supporting Variantsessv6658, essv6193
SamplesNA18532, NA18608
Known GenesMIR577, UGT8
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)esv2757949
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