A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758472



Internal ID9980549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13998749..15377894hg38UCSC Ensembl
Innerchr18:13998748..15377893hg19UCSC Ensembl
Innerchr18:13988748..15367893hg18UCSC Ensembl
Innerchr18:13988748..15367893hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381379146
hg191379146
hg181379146
hg171379146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758715
Supporting Variantsessv4840, essv21680, essv883, essv5399, essv6980, essv3388, essv1891, essv7365, essv5519
SamplesNA12248, NA18563, NA18529, NA18976, NA19000, NA18570, NA18945, NA18540, NA18612
Known GenesANKRD20A5P, ANKRD30B, CXADRP3, CYP4F35P, LOC400644, LOC644669, MIR3156-2, POTEC, ZNF519
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)esv2758472
Frequency
Sample Size270
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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