A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23934



Internal ID9622485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144274482..145393578hg19UCSC Ensembl
Innerchr1:142985839..144104935hg18UCSC Ensembl
Innerchr1:141851837..142882622hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191119097
hg181119097
hg171030786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA12814
Known GenesLINC00623, LOC100288142, LOC101929780, LOC653513, LOC728875, NBPF10, NBPF12, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, PPIAL4A, PPIAL4B, PPIAL4C, SEC22B
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)essv23934
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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