A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4780



Internal ID9626396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161769724..161990218hg38UCSC Ensembl
Innerchr6:162190756..162411250hg19UCSC Ensembl
Innerchr6:162110746..162331240hg18UCSC Ensembl
Innerchr6:162161167..162381661hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38220495
hg19220495
hg18220495
hg17220495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758090
Supporting Variants
SamplesNA18620
Known GenesPARK2
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)essv4780
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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