A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1932



Internal ID9617358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22328011..22500603hg38UCSC Ensembl
Innerchr8:22185524..22358116hg19UCSC Ensembl
Innerchr8:22241469..22414061hg18UCSC Ensembl
Innerchr8:22241469..22414061hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38172593
hg19172593
hg18172593
hg17172593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758620
Supporting Variants
SamplesNA18959
Known GenesPIWIL2, PPP3CC, SLC39A14
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)essv1932
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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