A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757763



Internal ID9979840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189277402..189680198hg38UCSC Ensembl
Innerchr1:189246533..189649328hg19UCSC Ensembl
Innerchr1:187513156..187915951hg18UCSC Ensembl
Innerchr1:185978190..186380985hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38402797
hg19402796
hg18402796
hg17402796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758982
Supporting Variantsessv2677, essv670, essv4457, essv3015, essv6767
SamplesNA18967, NA18975, NA18981, NA18552, NA18562
Known Genes
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)esv2757763
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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