A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759050



Internal ID9634509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55520103..55753939hg38UCSC Ensembl
Innerchr2:55747239..55981074hg19UCSC Ensembl
Innerchr2:55600743..55834578hg18UCSC Ensembl
Innerchr2:55658890..55892725hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38233837
hg19233836
hg18233836
hg17233836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757798
SamplesNA19173, NA18854, NA19101
Known GenesCCDC104, PNPT1, SMEK2
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)esv2759050
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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