A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17816



Internal ID9615687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93781..595840hg38UCSC Ensembl
Innerchr5:93896..595955hg19UCSC Ensembl
Innerchr5:146896..648955hg18UCSC Ensembl
Innerchr5:146896..648955hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38502060
hg19502060
hg18502060
hg17502060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757977
Supporting Variants
SamplesNA10831
Known GenesAHRR, C5orf55, CCDC127, EXOC3, LOC102467073, LRRC14B, MIR4456, PDCD6, PLEKHG4B, PP7080, SDHA, SLC9A3
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)essv17816
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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