A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17190



Internal ID9614992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144042048..144500577hg38UCSC Ensembl
Innerchr7:143739141..144197670hg19UCSC Ensembl
Innerchr7:143370074..143828603hg18UCSC Ensembl
Innerchr7:143176789..143635318hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38458530
hg19458530
hg18458530
hg17458530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA19171
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, NOBOX, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, RNU6-57P, TPK1
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)essv17190
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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