A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757723



Internal ID9633182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10682445..10995090hg38UCSC Ensembl
Innerchr1:10742502..11055147hg19UCSC Ensembl
Innerchr1:10665089..10977734hg18UCSC Ensembl
Innerchr1:10676768..10989413hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38312646
hg19312646
hg18312646
hg17312646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758921
Supporting Variantsessv13846, essv22143, essv18290, essv21666, essv11784, essv2783, essv3996, essv7352, essv11014, essv5362, essv7839, essv18597
SamplesNA18504, NA12248, NA10857, NA18563, NA10846, NA18558, NA18970, NA12234, NA18570, NA19143, NA18987, NA18854
Known GenesC1orf127, CASZ1
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)esv2757723
Frequency
Sample Size270
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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