A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758094



Internal ID9633553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167087716..167432447hg38UCSC Ensembl
Innerchr6:167501204..167845935hg19UCSC Ensembl
Innerchr6:167421194..167765917hg18UCSC Ensembl
Innerchr6:167471615..167816346hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38344732
hg19344732
hg18344724
hg17344732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759492
Supporting Variantsessv22845
SamplesNA12004
Known GenesCCR6, GPR31, TCP10, TCP10L2, TTLL2, UNC93A
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)esv2758094
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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