A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757745



Internal ID9633204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106941006..107298261hg38UCSC Ensembl
Innerchr1:107483628..107840883hg19UCSC Ensembl
Innerchr1:107285151..107642406hg18UCSC Ensembl
Innerchr1:107195670..107552925hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38357256
hg19357256
hg18357256
hg17357256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758957
Supporting Variantsessv20560
SamplesNA07056
Known GenesNTNG1, PRMT6
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)esv2757745
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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