A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34386



Internal ID12643739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25234630..25523810hg38UCSC Ensembl
Innerchr22:25630597..25919777hg19UCSC Ensembl
Innerchr22:23960597..24249777hg18UCSC Ensembl
Innerchr22:23955151..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38289181
hg19289181
hg18289181
hg17289181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6980610, essv6988979, essv6980611, essv6990503
SamplesNA19223
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34386
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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