A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18931



Internal ID9957579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72276713..72421130hg38UCSC Ensembl
Innerchr1:72742396..72886813hg19UCSC Ensembl
Innerchr1:72514984..72659401hg18UCSC Ensembl
Innerchr1:72454417..72598834hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38144418
hg19144418
hg18144418
hg17144418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757734
Supporting Variants
SamplesNA12005
Known GenesNEGR1
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)essv18931
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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