A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757982



Internal ID9980059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9797880..9990954hg38UCSC Ensembl
Innerchr5:9797992..9991066hg19UCSC Ensembl
Innerchr5:9850992..10044066hg18UCSC Ensembl
Innerchr5:9850992..10044066hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38193075
hg19193075
hg18193075
hg17193075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759322
Supporting Variantsessv24479
SamplesNA12056
Known GenesLOC285692
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)esv2757982
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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