A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12365



Internal ID9609631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57319743..60594857hg38UCSC Ensembl
Innerchr6:57184541..57562604hg19UCSC Ensembl
Innerchr6:57292500..57670563hg18UCSC Ensembl
Innerchr6:57292500..57670563hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383275115
hg19378064
hg18378064
hg17378064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758056
Supporting Variants
SamplesNA19138
Known GenesPRIM2
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)essv12365
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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