A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20045



Internal ID9954494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54648267..54806377hg38UCSC Ensembl
Innerchr10:56408027..56566137hg19UCSC Ensembl
Innerchr10:56078033..56236143hg18UCSC Ensembl
Innerchr10:56078033..56236143hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38158111
hg19158111
hg18158111
hg17158111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758221
Supporting Variants
SamplesNA07048
Known GenesPCDH15
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)essv20045
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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