A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759611



Internal ID9635070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47875732..48095454hg38UCSC Ensembl
Innerchr8:48788293..49008014hg19UCSC Ensembl
Innerchr8:48950846..49170567hg18UCSC Ensembl
Innerchr8:48950846..49170567hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38219723
hg19219722
hg18219722
hg17219722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758156
SamplesNA19142, NA19140
Known GenesMCM4, PRKDC, UBE2V2
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)esv2759611
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