A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12976



Internal ID9610309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149004461..149898796hg19UCSC Ensembl
Innerchr1:147271085..148165420hg18UCSC Ensembl
Innerchr1:145784053..146711869hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19894336
hg18894336
hg17927817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA18859
Known GenesBOLA1, FCGR1A, FCGR1C, HIST2H2AA3, HIST2H2AA4, HIST2H2AB, HIST2H2AC, HIST2H2BC, HIST2H2BE, HIST2H2BF, HIST2H3A, HIST2H3C, HIST2H3D, HIST2H4A, HIST2H4B, LINC00623, LINC00869, LOC101929780, LOC388692, NBPF23, PPIAL4A, PPIAL4B, PPIAL4C, SF3B4, SV2A
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)essv12976
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer