A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22374



Internal ID9620752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93781..338972hg38UCSC Ensembl
Innerchr5:93896..339087hg19UCSC Ensembl
Innerchr5:146896..392087hg18UCSC Ensembl
Innerchr5:146896..392087hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38245192
hg19245192
hg18245192
hg17245192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757977
Supporting Variants
SamplesNA12875
Known GenesAHRR, CCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
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)essv22374
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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