A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8614



Internal ID25058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46795239..46972489hg19UCSC Ensembl
chr3:46770243..46947493hg18UCSC Ensembl
chr3:46770243..46947493hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV CNV
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
SamplesNA19239
Known GenesCCDC12, MYL3, PRSS42, PTH1R
MethodSNP_array
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)essv8614
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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