A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759420



Internal ID9634879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35495964..35838727hg38UCSC Ensembl
Innerchr6:35463741..35806504hg19UCSC Ensembl
Innerchr6:35571719..35914482hg18UCSC Ensembl
Innerchr6:35571719..35914482hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38342764
hg19342764
hg18342764
hg17342764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758048
SamplesNA12005, NA12707, NA12763, NA19173
Known GenesARMC12, CLPS, CLPSL1, CLPSL2, FKBP5, LHFPL5, LOC285847, MIR5690, SRPK1, TEAD3, TULP1
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)esv2759420
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer