A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34249



Internal ID12990288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323279..25515104hg38UCSC Ensembl
Innerchr22:25719246..25911071hg19UCSC Ensembl
Innerchr22:24049246..24241071hg18UCSC Ensembl
Innerchr22:24043800..24235625hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38191826
hg19191826
hg18191826
hg17191826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv177e55
Supporting Variantsessv6987306, essv6978010
SamplesNA10856
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34249
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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