A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15752



Internal ID9613394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248336807..248511794hg38UCSC Ensembl
Innerchr1:248500109..248675095hg19UCSC Ensembl
Innerchr1:246566732..246741718hg18UCSC Ensembl
Innerchr1:244826150..245001136hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38174988
hg19174987
hg18174987
hg17174987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757781
Supporting Variants
SamplesNA19131
Known GenesOR14C36, OR2T1, OR2T2, OR2T3, 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)essv15752
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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