A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2996



Internal ID9624413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32988321..33117822hg38UCSC Ensembl
Innerchr20:31576127..31705628hg19UCSC Ensembl
Innerchr20:31039788..31169289hg18UCSC Ensembl
Innerchr20:31039788..31169289hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38129502
hg19129502
hg18129502
hg17129502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758519
Supporting Variants
SamplesNA18981
Known GenesBPIFB2, BPIFB3, BPIFB4, BPIFB6, SUN5
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)essv2996
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