A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16973



Internal ID9614750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149004461..149990513hg19UCSC Ensembl
Innerchr1:147271085..148257137hg18UCSC Ensembl
Innerchr1:145784053..146803586hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19986053
hg18986053
hg171019534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA19144
Known GenesBOLA1, FCGR1A, FCGR1C, HIST2H2AA3, HIST2H2AA4, HIST2H2AB, HIST2H2AC, HIST2H2BC, HIST2H2BE, HIST2H2BF, HIST2H3A, HIST2H3C, HIST2H3D, HIST2H4A, HIST2H4B, LINC00623, LINC00869, LOC101929780, LOC388692, MTMR11, NBPF23, OTUD7B, 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)essv16973
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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