A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17008



Internal ID9614790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248336807..248702073hg38UCSC Ensembl
Innerchr1:248500109..248865374hg19UCSC Ensembl
Innerchr1:246566732..246931997hg18UCSC Ensembl
Innerchr1:244826150..245191415hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38365267
hg19365266
hg18365266
hg17365266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757781
Supporting Variants
SamplesNA19144
Known GenesOR14C36, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
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)essv17008
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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