A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24398



Internal ID9623000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35669306..35838727hg38UCSC Ensembl
Innerchr6:35637083..35806504hg19UCSC Ensembl
Innerchr6:35745061..35914482hg18UCSC Ensembl
Innerchr6:35745061..35914482hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38169422
hg19169422
hg18169422
hg17169422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758048
Supporting Variants
SamplesNA12707
Known GenesARMC12, CLPS, CLPSL1, CLPSL2, FKBP5, LHFPL5, LOC285847, SRPK1
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)essv24398
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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