A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11784



Internal ID9608985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10743761..10861098hg38UCSC Ensembl
Innerchr1:10803818..10921155hg19UCSC Ensembl
Innerchr1:10726405..10843742hg18UCSC Ensembl
Innerchr1:10738084..10855421hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38117338
hg19117338
hg18117338
hg17117338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757723
Supporting Variants
SamplesNA18504
Known GenesCASZ1
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)essv11784
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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