A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20165



Internal ID9956721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136504546..136947320hg38UCSC Ensembl
Innerchr8:137516789..137959563hg19UCSC Ensembl
Innerchr8:137585971..138028745hg18UCSC Ensembl
Innerchr8:137585971..138028745hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38442775
hg19442775
hg18442775
hg17442775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758172
Supporting Variants
SamplesNA11832
Known Genes
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)essv20165
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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