A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34857



Internal ID12644207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254681..25534512hg38UCSC Ensembl
Innerchr22:25650648..25930479hg19UCSC Ensembl
Innerchr22:23980648..24260479hg18UCSC Ensembl
Innerchr22:23975202..24255033hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38279832
hg19279832
hg18279832
hg17279832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6986847, essv6979382, essv6979383, essv6979381
SamplesNA18542
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)esv34857
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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