A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24410



Internal ID9623015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36779110..36813326hg38UCSC Ensembl
Innerchr22:37175154..37209370hg19UCSC Ensembl
Innerchr22:35505100..35539316hg18UCSC Ensembl
Innerchr22:35499654..35533870hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3834217
hg1934217
hg1834217
hg1734217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758546
Supporting Variants
SamplesNA12707
Known GenesPVALB
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)essv24410
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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