A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7188



Internal ID9629071
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758546
Supporting Variants
SamplesNA18547
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)essv7188
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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