A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18757



Internal ID9616732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12621942..12784093hg38UCSC Ensembl
Innerchr9:12621942..12784092hg19UCSC Ensembl
Innerchr9:12611942..12774092hg18UCSC Ensembl
Innerchr9:12611942..12774092hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38162152
hg19162151
hg18162151
hg17162151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758181, esv2758182
Supporting Variants
SamplesNA12874
Known GenesLURAP1L, TYRP1
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)essv18757
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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