A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12351



Internal ID9609616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17364591..17721460hg38UCSC Ensembl
Innerchr5:17364700..17721569hg19UCSC Ensembl
Innerchr5:17417700..17757290hg18UCSC Ensembl
Innerchr5:17417700..17757290hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38356870
hg19356870
hg18339591
hg17339591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757986
Supporting Variants
SamplesNA19138
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)essv12351
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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