A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10345



Internal ID9607387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144042048..144671545hg38UCSC Ensembl
Innerchr7:143739141..144368638hg19UCSC Ensembl
Innerchr7:143370074..143999571hg18UCSC Ensembl
Innerchr7:143176789..143806286hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38629498
hg19629498
hg18629498
hg17629498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758138
Supporting Variants
SamplesNA18506
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)essv10345
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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