A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757799



Internal ID9633258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55951304..56245259hg38UCSC Ensembl
Innerchr2:56178439..56472394hg19UCSC Ensembl
Innerchr2:56031943..56325898hg18UCSC Ensembl
Innerchr2:56090090..56384045hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38293956
hg19293956
hg18293956
hg17293956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759051
Supporting Variantsessv5309
SamplesNA18563
Known GenesCCDC85A, MIR216A, MIR216B, MIR217
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)esv2757799
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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