A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23602



Internal ID9622117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32908001..33117822hg38UCSC Ensembl
Innerchr20:31495807..31705628hg19UCSC Ensembl
Innerchr20:30959468..31169289hg18UCSC Ensembl
Innerchr20:30959468..31169289hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38209822
hg19209822
hg18209822
hg17209822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758519
Supporting Variants
SamplesNA12006
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)essv23602
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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