A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11734



Internal ID9608930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:774447..1061564hg38UCSC Ensembl
Innerchr11:774447..1061564hg19UCSC Ensembl
Innerchr11:764447..1051564hg18UCSC Ensembl
Innerchr11:764447..1051564hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38287118
hg19287118
hg18287118
hg17287118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758250
Supporting Variants
SamplesNA18504
Known GenesAP2A2, CD151, CEND1, CHID1, EFCAB4A, MUC6, NS3BP, PDDC1, PIDD, PNPLA2, POLR2L, RPLP2, SLC25A22, SNORA52, TSPAN4
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)essv11734
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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