A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758546



Internal ID9634005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36779110..36964864hg38UCSC Ensembl
Innerchr22:37175154..37360905hg19UCSC Ensembl
Innerchr22:35505100..35690851hg18UCSC Ensembl
Innerchr22:35499654..35685405hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38185755
hg19185752
hg18185752
hg17185752
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758837
Supporting Variantsessv15742, essv18264, essv5580, essv11201, essv16365, essv10162, essv17925, essv7188, essv21431, essv22476, essv3389, essv23139, essv586, essv4183, essv875, essv17848, essv20283, essv18236, essv24671, essv24927, essv6584, essv23043, essv19024, essv14293, essv11722, essv17473, essv18070, essv21863, essv24410, essv22962, essv19493, essv19672, essv10753
SamplesNA18998, NA12717, NA18621, NA11829, NA19204, NA18526, NA07357, NA12812, NA10846, NA12891, NA18547, NA19131, NA12762, NA19130, NA12761, NA12005, NA19194, NA12003, NA10831, NA18529, NA11839, NA19000, NA19154, NA12264, NA12145, NA12707, NA12144, NA18523, NA18945, NA12864, NA12057, NA19193, NA06994
Known GenesCSF2RB, NCF4, PVALB
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)esv2758546
Frequency
Sample Size270
Observed Gain20
Observed Loss13
Observed Complex0
Frequencyn/a


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