A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4862



Internal ID9626487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131773320..132239461hg38UCSC Ensembl
Innerchr2:132530893..132997034hg19UCSC Ensembl
Innerchr2:132247363..132713504hg18UCSC Ensembl
Innerchr2:132364625..132830766hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38466142
hg19466142
hg18466142
hg17466142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18540
Known GenesANKRD30BL, C2orf27B
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)essv4862
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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