A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759483



Internal ID9634942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:159582799..159794119hg38UCSC Ensembl
Innerchr6:160003831..160215151hg19UCSC Ensembl
Innerchr6:159923821..160135141hg18UCSC Ensembl
Innerchr6:159974242..160185562hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38211321
hg19211321
hg18211321
hg17211321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758088
SamplesNA18621, NA12236, NA19171, NA19131, NA06993, NA18949, NA10831, NA12264, NA19101, NA12144, NA06994, NA19173
Known GenesACAT2, LOC100129518, MRPL18, SNORA20, SNORA29, SOD2, TCP1, WTAP
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)esv2759483
Frequency
Sample Size270
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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