A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751963



Internal ID12638829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33459526..33539911hg38UCSC Ensembl
Innerchr22:33855512..33935897hg19UCSC Ensembl
Innerchr22:32185512..32265897hg18UCSC Ensembl
Innerchr22:32180066..32260451hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3880386
hg1980386
hg1880386
hg1780386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986133, essv6982290, essv6988516
SamplesBEC_411
Known GenesLARGE
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)esv2751963
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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