A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11234



Internal ID9608375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133081542..133311899hg38UCSC Ensembl
Innerchr10:134895046..135125403hg19UCSC Ensembl
Innerchr10:134745036..134975393hg18UCSC Ensembl
Innerchr10:134783927..135014284hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38230358
hg19230358
hg18230358
hg17230358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758248
Supporting Variants
SamplesNA19204
Known GenesADAM8, GPR123, KNDC1, MIR202, MIR202HG, TUBGCP2, UTF1, VENTX, 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)essv11234
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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