A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757744



Internal ID9979821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106217940..106338960hg38UCSC Ensembl
Innerchr1:106760562..106881582hg19UCSC Ensembl
Innerchr1:106562085..106683105hg18UCSC Ensembl
Innerchr1:106472604..106593624hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38121021
hg19121021
hg18121021
hg17121021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758956
Supporting Variantsessv4947
SamplesNA18637
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)esv2757744
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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