A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14792



Internal ID9612327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46893994..47199967hg38UCSC Ensembl
Innerchr17:44971360..45277333hg19UCSC Ensembl
Innerchr17:42326359..42632332hg18UCSC Ensembl
Innerchr17:42326359..42632332hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38305974
hg19305974
hg18305974
hg17305974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758457
Supporting Variants
SamplesNA19159
Known GenesCDC27, GOSR2, MIR5089, RPRML
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)essv14792
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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