A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24387



Internal ID9622988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22014455..22054205hg38UCSC Ensembl
Innerchr22:22368853..22408604hg19UCSC Ensembl
Innerchr22:20698853..20738604hg18UCSC Ensembl
Innerchr22:20693407..20733158hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3839751
hg1939752
hg1839752
hg1739752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758537
Supporting Variants
SamplesNA12707
Known Genes
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)essv24387
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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