A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5493



Internal ID9627188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131521008..131948657hg38UCSC Ensembl
Innerchr2:132278581..132706230hg19UCSC Ensembl
Innerchr2:131995051..132422700hg18UCSC Ensembl
Innerchr2:132112313..132539962hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38427650
hg19427650
hg18427650
hg17427650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA18632
Known GenesC2orf27A, C2orf27B, CCDC74A, LINC01087, LOC150776, POTEKP, RNU6-81P
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)essv5493
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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