A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758934



Internal ID9634393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52660343..52823509hg38UCSC Ensembl
Innerchr1:53126015..53289181hg19UCSC Ensembl
Innerchr1:52898603..53061769hg18UCSC Ensembl
Innerchr1:52838036..53001202hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38163167
hg19163167
hg18163167
hg17163167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757731
SamplesNA18951
Known GenesSELRC1, ZYG11B
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)esv2758934
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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