A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20368



Internal ID9955058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133245214..133408798hg38UCSC Ensembl
Innerchr10:135058718..135222302hg19UCSC Ensembl
Innerchr10:134908709..135072292hg18UCSC Ensembl
Innerchr10:134947600..135111183hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38163585
hg19163585
hg18163584
hg17163584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758248
Supporting Variants
SamplesNA10830
Known GenesADAM8, CALY, ECHS1, FUOM, MIR202, MIR202HG, MIR3944, MTG1, PAOX, PRAP1, TUBGCP2, ZNF511
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)essv20368
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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