A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758979



Internal ID9981124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174500143..174600638hg38UCSC Ensembl
Innerchr1:174469281..174569776hg19UCSC Ensembl
Innerchr1:172735904..172836399hg18UCSC Ensembl
Innerchr1:171200938..171301433hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38100496
hg19100496
hg18100496
hg17100496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757762
SamplesNA18987
Known GenesRABGAP1L
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)esv2758979
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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