A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2853



Internal ID9624255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17364591..17581079hg38UCSC Ensembl
Innerchr5:17364700..17530657hg19UCSC Ensembl
Innerchr5:17417700..17597918hg18UCSC Ensembl
Innerchr5:17417700..17597918hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38216489
hg19165958
hg18180219
hg17180219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757986
Supporting Variants
SamplesNA18953
Known GenesLOC401177
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)essv2853
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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