A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1272



Internal ID9610025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161443324..161654637hg38UCSC Ensembl
Innerchr1:161413602..161624427hg19UCSC Ensembl
Innerchr1:159680001..159891051hg18UCSC Ensembl
Innerchr1:158226187..158356094hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38211314
hg19210826
hg18211051
hg17129908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757757
Supporting Variants
SamplesNA18995
Known GenesFCGR2A, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)essv1272
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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