A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2222



Internal ID9620581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17412464..17721460hg38UCSC Ensembl
Innerchr5:17412573..17721569hg19UCSC Ensembl
Innerchr5:17465573..17757290hg18UCSC Ensembl
Innerchr5:17465573..17757290hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38308997
hg19308997
hg18291718
hg17291718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757986
Supporting Variants
SamplesNA18960
Known Genes
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)essv2222
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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