A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758220



Internal ID9633679
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 StatusM
Merged Variantsesv2759753
Supporting Variantsessv15761, essv9033
SamplesNA19131, NA19132
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)esv2758220
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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