A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757775



Internal ID9979852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231489014..231780250hg38UCSC Ensembl
Innerchr1:231624760..231915996hg19UCSC Ensembl
Innerchr1:229691383..229982619hg18UCSC Ensembl
Innerchr1:227931495..228222731hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38291237
hg19291237
hg18291237
hg17291237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759004
Supporting Variantsessv24276, essv21230
SamplesNA11830, NA10856
Known GenesDISC1, LINC00582, TSNAX, TSNAX-DISC1
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)esv2757775
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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