A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759496



Internal ID9634955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:169346196..169434098hg38UCSC Ensembl
Innerchr6:169746291..169834193hg19UCSC Ensembl
Innerchr6:169488216..169576118hg18UCSC Ensembl
Innerchr6:169563923..169651825hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3887903
hg1987903
hg1887903
hg1787903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758096
SamplesNA19132, NA12763
Known Genes
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)esv2759496
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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