A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751928



Internal ID12985480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36104061..36250617hg38UCSC Ensembl
Innerchr21:37476359..37622915hg19UCSC Ensembl
Innerchr21:36398229..36544785hg18UCSC Ensembl
Innerchr21:36398229..36544785hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38146557
hg19146557
hg18146557
hg17146557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985932, essv6985933, essv6985935, essv6988963, essv6985934
SamplesSPC_86
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
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)esv2751928
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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