A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11223



Internal ID9608363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1688214..1798824hg38UCSC Ensembl
Innerchr1:1619653..1730263hg19UCSC Ensembl
Innerchr1:1609516..1720123hg18UCSC Ensembl
Innerchr1:1651818..1762425hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38110611
hg19110611
hg18110608
hg17110608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757717
Supporting Variants
SamplesNA19204
Known GenesCDK11A, CDK11B, GNB1, MMP23A, NADK, SLC35E2, SLC35E2B
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)essv11223
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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