A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19267



Internal ID9617299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:87951601..88121475hg38UCSC Ensembl
Innerchr8:88963829..89133704hg19UCSC Ensembl
Innerchr8:89032945..89202820hg18UCSC Ensembl
Innerchr8:89032945..89202820hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38169875
hg19169876
hg18169876
hg17169876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758163
Supporting Variants
SamplesNA10838
Known GenesMMP16
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)essv19267
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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