A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34928



Internal ID12644278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131414521..131565542hg38UCSC Ensembl
Innerchr9:134289908..134440929hg19UCSC Ensembl
Innerchr9:133279729..133430750hg18UCSC Ensembl
Innerchr9:131319462..131470483hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38151022
hg19151022
hg18151022
hg17151022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987029, essv6980189, essv6990453
SamplesNA18967
Known GenesPOMT1, PRRC2B, SNORD62A, SNORD62B, UCK1
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)esv34928
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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