A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14452



Internal ID9611950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:2618610..3156581hg38UCSC Ensembl
Innerchr10:2660802..3198773hg19UCSC Ensembl
Innerchr10:2650802..3188773hg18UCSC Ensembl
Innerchr10:2650802..3188773hg17UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38537972
hg19537972
hg18537972
hg17537972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758208
Supporting Variants
SamplesNA19201
Known GenesPFKP, PITRM1, PITRM1-AS1
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)essv14452
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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