A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15761



Internal ID9613404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53600852..53827170hg38UCSC Ensembl
Innerchr10:55360612..55586930hg19UCSC Ensembl
Innerchr10:55030618..55256936hg18UCSC Ensembl
Innerchr10:55030618..55256936hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38226319
hg19226319
hg18226319
hg17226319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758220
Supporting Variants
SamplesNA19131
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)essv15761
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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